Inclusion of a positive sample in each MLPA or digitalMLPA experiment is not required, but can be useful for the analysis of your experiments. MRC Holland has very limited access to positive samples and cannot supply such samples. You can sometimes obtain a useful positive sample from an online biorepository, such as the one from the Coriell Institute.
We have tested a large number of commercially available positive samples with our MLPA or digitalMLPA probemixes. A list of positive samples that provide useful results and their verified copy number change(s) can be found in the table below. These samples can be used as positive control samples for the specified probemix(es). You are welcome to contact us if you know of other positive samples that can be useful for one of our probemixes.
Important
The quality of cell lines can change, and these samples are not controlled by us. In addition, exon numbering may change and the table may contain inaccuracies. Therefore, all samples should be validated in-house before use.
Notes:
- All samples can be obtained from the Coriell Institute or DSMZ unless noted otherwise. You can find these samples by searching for the sample id on the appropriate website.
- Samples obtained from the Coriell Institute can often be diluted to 10 ng/µl upon arrival.
- Probemixes are specified by their major version. Read more about version numbers of probemixes in this article.
| Probemix(es) | Gene(s) | Sample ID &
sex (m/f) |
Copy number changes detected |
|---|---|---|---|
| D001-C | Various | See the product description for a large number of positive samples. | |
| D006-A | Various | See the product description for a large number of positive samples. | |
| D007-A | Various | See the product description for a large number of positive samples. | |
| ME011 | See the product page for positive samples. | ||
| ME012-B | various | Coriell NA00959 (m) | Heterozygous duplication affecting all MGMT probes. All MGMT probes are not methylated. |
| Coriell NA05299 (f) | Heterozygous deletion affecting all MGMT probes. All MGMT probes are not methylated. | ||
| Coriell NA20263 (m) | Heterozygous deletion affecting all MGMT probes. All MGMT probes are not methylated. | ||
| DSMZ ACC-3 (HL-60) (f) | All MGMT probes are not methylated. Some of the reference probe targets are affected by copy number alterations. | ||
| DSMZ ACC-180 (HEP-G2) (m) | Positive for the TERT C228T mutation. All MGMT probes are methylated. Some of the reference probe and control probe targets are affected by copy number alterations. | ||
| DSMZ ACC-277 (DK-MG) (f) | Heterozygous deletion affecting all MGMT probes. Positive for the TERT C250T mutation. All MGMT probes are methylated. | ||
| DSMZ ACC-405 (GMS-10) (m) | Heterozygous deletion affecting all MGMT probes. Positive for the TERT C228T mutation. All MGMT probes are methylated except the probes at 175 and 215 nt. Some of the reference probe targets are affected by copy number alterations. | ||
| DSMZ ACC-431 (42-MG-BA) (m) | Positive for the TERT C228T mutation. All MGMT probes are methylated except the probes at 175. Some of the reference probe targets are affected by copy number alterations. | ||
| DSMZ ACC-569 (MOLP-8) (f) | Heterozygous deletion affecting all MGMT probes. All MGMT probes are not methylated. Some of the reference probe targets are affected by copy number alterations. | ||
| Promega Methylated Human Control DNA | Positive control - all targets are methylated. | ||
| EpigenDx Human High Methylated Genomic DNA | Positive control - all targets are methylated. | ||
| Sigma-Aldrich Methylated Control DNA | Positive control - all targets are methylated. | ||
| ME024-B | 9p region | Coriell NA01750 (m) | Gain affecting the probes for DOCK8, GLDC, MLLT3, KLHL9, MIR31, MTAP, CDKN2A, CDKN2B-AS1 and CDKN2B. CDKN2A/2B are unmethylated; MIR31 is methylated. |
| Coriell NA02819 (f) | Gain affecting the probes for DOCK8, GLDC, MLLT3, KLHL9, MIR31, MTAP, CDKN2A, CDKN2B-AS1 and CDKN2B. CDKN2A/2B are unmethylated; MIR31 is methylated. | ||
| Coriell NA03226 (m) | Gain affecting all target probes on 9p. CDKN2A/2B are unmethylated; MIR31 is methylated. | ||
| Coriell NA05067 (m) | Gain affecting all target probes on 9p. CDKN2A/2B are unmethylated; MIR31 is partially methylated. | ||
| DSMZ ACC-3 (HL-60) (f) | Heterozygous loss affecting all target probes on 9p21.3.Gain affecting the reference probe at 124 nt. CDKN2A/2B are unmethylated; MIR31 is methylated. | ||
| DSMZ ACC-29 (MOLT-16) (f) | Homozygous deletion of CDKN2A and CDKN2B. MIR31 is methylated. | ||
| DSMZ ACC-200 (COLO-824) (f) | Gain affecting all target probes on 9p. CDKN2A/2B are unmethylated; MIR31 is methylated. | ||
| DSMZ ACC-203 (SK-N-MC) (f) | Loss affecting the reference probe at 185 nt CDKN2A is unmethylated; CDKN2B is methylated; MIR31 is methylated. | ||
| DSMZ ACC-255 (CADO-ES1) (f) | Homozygous loss affecting the probes for MTAP, CDKN2A and CDKN2B. MIR31 is unmethylated. | ||
| DSMZ ACC-573 (SU-DHL-8) (f) | CDKN2A exon 1 is not methylated; CDKN2B is partially methylated; CDKN2A exon 2 and MIR31 are methylated. | ||
| DSMZ ACC-581 (HCT-116) (m) | CDKN2A is methylated; CDKN2B is unmethylated; MIR31 is methylated. | ||
| ME028 | See the product page for positive samples. | ||
| ME029-B | FMR1 | Coriell NA09145 (m) | FMR1 full mutation sample. |
| Coriell NA09237 (m) | FMR1 full mutation sample. | ||
| Coriell NA20231 (m) | FMR1 premutation sample. | ||
| ME031-C | 20q12.32 region | Coriell NA08123 (m) | Heterozygous duplication of the maternal allele affecting the probes for STX16, GNAS-AS1, NESP55, GNASXL, GNAS-A/B, GNAS and NELFCD. Methylation ratio of ~0.33 (33%) expected for NESP55 DMR, and ~0.67 (67%) for GNAS-AS1, GNASXL and GNAS A/B DMRs. |
| ME032 | See the product page for positive samples. | ||
| ME042-C | CDKN2A | Coriell NA02819 (f) | Gain affecting the probes for CDKN2A. IGF2 is methylated. |
| Coriell NA05067 (m) | Gain affecting the probes for CDKN2A. | ||
| MLH1 | Coriell NA04127 (f) | Gain affecting the probes for MLH1. | |
| SOCS1 | Coriell NA06226 (m) | Gain affecting the probes for SOCS1. | |
| Coriell NA08039 (m) | Gain affecting the probes for SOCS1. IGF2 is methylated. | ||
| CACNA1G | Coriell NA04127 (f) | Heterozygous deletion affecting the probes for CACNA1G. CRABP1 is methylated. | |
| Various | DSMZ ACC-022 (REH) (f) | RUNX3, NEUROG1, CDKN2A, IGF2, CRABP1 and CACNA1G are methylated. | |
| DSMZ ACC-042 (697) (m) | RUNX3, NEUROG1, CDKN2A, IGF2, CRABP1 and CACNA1G are methylated. | ||
| DSMZ ACC-255 (CADO-ES1) (f) | Homozygous deletion affecting the probes for CDKN2A. Gain affecting the probes for CACNA1G. NEUROG1, IGF2 and CRABP1 are methylated. | ||
| DSMZ ACC-427 (DU-4475) (f) | Positive for the BRAF c.1799T>A (p.V600E) mutation. RUNX3, MLH1, NEUROG1, CDKN2A, IGF2, CRABP1 and CACNA1G are methylated. | ||
| DSMZ ACC-573 (SU-DHL-8) (m) | RUNX3, NEUROG1, CDKN2A, IGF2, CRABP1 and CACNA1G are methylated. | ||
| DSMZ ACC-581 (HCT-116) (m) | Gain affecting the probes for CACNA1G. RUNX3, NEUROG1, CDKN2A, IGF2, CRABP1 and CACNA1G are methylated. | ||
| ME053-A | 13q12.11-q32.3 region &
17p11.2-p13.1 region & 17q21.33-q22 region |
DSMZ ACC-9 (U-266) (m) | Heterozygous deletion affecting the probes for ZMYM2, CENPJ, BRCA2, N4BP2L, PCCA5, ATP1B2 and AKAP10. Gain affecting the probes for SGCA, COL1A1 and RAD51C. |
| 13q12.11-q32.3 region &
17p11.2-p13.1 region |
DSMZ ACC-10 (K-562) (f) | Heterozygous deletion affecting the probes for ZMYM2, CENPJ, BRCA2, N4BP2L, PCCA5, ATP1B2 and AKAP10. | |
| BRCA2 | DSMZ ACC-573 (SU-DHL-8) (m) | Gain affecting the probes for BRCA2. RAD51C is methylated. | |
| RAD51C | DSMZ ACC-20 (BV-173) (m) | RAD51C is methylated. | |
| ACC-78 (DAUDI) (m) | RAD51C is methylated. | ||
| 17q21.33-q22 region | DSMZ ACC-255 (CADO-ES1) (f) | Gain affecting the probes for SGCA, COL1A1 and RAD51C. | |
| DSMZ ACC-581 (HCT-116) (m) | Gain affecting the probes for SGCA, COL1A1 and RAD51C. | ||
| Various | Zymo Research Human HCT116 DKO Non-Methylated DNA | Gain affecting the probes for SGCA, COL1A1 and RAD51C. Negative control - all targets are non-methylated. | |
| Zymo Research Human HCT116 DKO Methylated DNA | Gain affecting the probes for SGCA, COL1A1 and RAD51C. Positive control - all targets are methylated. | ||
| Promega Methylated Human Control DNA | Positive control - all targets are methylated. | ||
| P002 | See the product page for positive samples. | ||
| P003 | See the product page for positive samples. | ||
| P015 | See the product page for positive samples. | ||
| P016 | See the product page for positive samples. | ||
| P018 | See the product page for positive samples. | ||
| P021 | See the product page for positive samples. | ||
| P022-B | Xq22 region | Coriell NA11005 (m) | Heterozygous duplication affecting the probes for BEX4, BEX2, NGFRAP1, RAB40A, TCEAL1, MORF4L2, TMEM31, GLRA4, PLP1, RAB9B and TMSB15B. |
| Xq22.2 region | Coriell NA13434 (m) | Heterozygous deletion affecting the PLP1 exon 5 probe. | |
| P025-A | 17p/CTNS/ASPA | Coriell NA06047 (m) | Large heterozygous deletion (5.6 Mb) that includes the complete ASPA gene. |
| P026-E | NSD1 | Coriell NA01535 (f) | Heterozygous duplication affecting the probes for NSD1. |
| Coriell NA04371 (m) | Heterozygous duplication affecting the probes for NSD1. | ||
| P027-C | 3p25.3-p26.3 region | Coriell NA10985 (f) | Heterozygous deletion affecting the probes for CHL1, BRK1 and VHL. |
| Coriell NA03503 (m) | Heterozygous duplication affecting the probes for CHL1, BRK1, VHL, PPARG and XPC. | ||
| 3p21.31-p26.3 region | Coriell NA04127 (f) | Heterozygous duplication affecting the probes for CHL1, BRK1, VHL, PPARG, XPC, MIR128-2, MLH1, CTNNB1 and RBM5. | |
| 3q11.2-q21.1 region | Coriell NA08778 (m) | Heterozygous deletion affecting the probes for PROS1 and CASR. | |
| 3q21.1-q29 region | Coriell NA03563 (m) | Heterozygous duplication affecting the probes for CASR, MME and OPA1. | |
| 3q29 region | Coriell NA10175 (m) | Heterozygous duplication affecting the OPA1 probe. | |
| Coriell NA22976 (m) | Heterozygous duplication affecting the OPA1 probe. | ||
| 6p25.2 region | Coriell NA22770 (m) | Heterozygous duplication affecting the ECI2 probe. | |
| 6q23.2 region | Coriell NA09367 (f) | Heterozygous duplication affecting the CCN2 probe. | |
| 6q25.3 region | Coriell NA06802 (m) | Heterozygous deletion affecting the IGF2R probe. | |
| Coriell NA07994 (m) | Heterozygous duplication affecting the IGF2R probe. | ||
| 8p21.3 region | Coriell NA03255 (m) | Heterozygous duplication affecting the LZTS1 probe. | |
| 8p12-p21.3 region | Coriell NA14485 (m) | Heterozygous duplication affecting the probes for LZTS1 and NRG1. | |
| 8p21.3-q24.21 region | Coriell NA02030 (m) | Heterozygous duplication affecting the probes for LZTS1, NRG1, RP1, MYC and ASAP1. | |
| 8q24.21 region | Coriell NA03999 (f) | Heterozygous deletion affecting the probes for MYC and ASAP1. | |
| P029-C | 7q11.23 region | Coriell NA13464 (m) | Williams-Beuren syndrome deletion (commonly deletion region). |
|
P031-B &
|
FANCA | Coriell NA09687 (m) | Heterozygous duplication affecting the probes for FANCA and GAS8. |
| P033 | See the product page for positive samples. | ||
| P034 | See the product page for positive samples. | ||
| P035 | See the product page for positive samples. | ||
| P036 | See the product page for positive samples. | ||
| P037-B | 2p region | Coriell NA00945 (f) | Heterozygous deletion that affects all MYCN probes. |
| Coriell NA01353 (m) | Heterozygous duplication that affects all MYCN and ALK probes. | ||
| Coriell NA04409 (m) | Heterozygous duplication that affects all MYCN probes. | ||
| Coriell NA09216 (m) | Heterozygous deletion that affects all MYCN probes. | ||
| Coriell NA10401 (f) | Heterozygous duplication that affects all MYCN, ALK and REL probes. | ||
| 6q region | Coriell NA01221 (m) | Heterozygous duplication affecting the probes for AIM1 and SEC63. | |
| Coriell NA06802 (m) | Heterozygous deletion that affects all IGF2R and PARK2 probes. | ||
| Coriell NA07994 (m) | Heterozygous duplication that affects all TNFAIP3, LATS1, IGF2R and PARK2 probes. | ||
| Coriell NA09367 (f) | Heterozygous duplication that affects all SEC63 and TNFAIP3 probes. | ||
| 8p region | Coriell NA03255 (m) | Heterozygous duplication that affects all TNFRSF10A and TNFRSF10B probes. | |
| Coriell NA14485 (m) | Heterozygous duplication that affects all TNFRSF10A and TNFRSF10B probes. | ||
| 8p/q region | Coriell NA02030 (m) | Heterozygous duplication that affects all TNFRSF10A, TNFRSF10B, EIF3H and MYC probes. | |
| 8q region | Coriell NA03999 (f) | Heterozygous deletion that affects all MYC probes. | |
| Coriell NA09888 (f) | Heterozygous deletion affecting the probe for EIF3H. | ||
| 9p region | Coriell NA01750 (m) | Heterozygous duplication affecting the probes for CDKN2A and CDKN2B. | |
| Coriell NA03226 (m) | Heterozygous duplication affecting the probes for CDKN2A and CDKN2B. | ||
| 11q region | Coriell NA08618 (m) | Heterozygous duplication that affects all ATM probes. | |
| Coriell NA09596 (m) | Heterozygous deletion that affects all ATM probes. | ||
| 12p region | Coriell NA07981 (m) | Heterozygous triplication/ homozygous duplication affecting the probes for CCND2 and LRMP. | |
| Coriell NA08035 (m) | Heterozygous duplication affecting the probes for CCND2 and LRMP. | ||
| 12q region | Coriell NA07891 (m) | Heterozygous duplication affecting the probe for CHFR. | |
| 13q14 region | Coriell NA05832 (m) | Heterozygous duplication affecting the probes for RB1, FNDC3A, KCNRG, MIR15A, DLEU2, DLEU7 and ATP7B. | |
| Coriell NA09711 (m) | Heterozygous duplication affecting the probes for RB1, FNDC3A, KCNRG, MIR15A, DLEU2, DLEU7 and ATP7B. | ||
| Coriell NA13721 (m) | Heterozygous deletion affecting the probes for RB1, FNDC3A, KCNRG, MIR15A, DLEU2, DLEU7 and ATP7B. | ||
| Coriell NA14164 (f) | Heterozygous deletion affecting the probes for RB1, FNDC3A, KCNRG, MIR15A, DLEU2, DLEU7 and ATP7B. | ||
| Various | Coriell NA02819 (f) | Heterozygous duplication that affects all CDKN2A and CDKN2B probes; heterozygous deletion that affects all CHFR probes. | |
| DSMZ ACC-047 (DOHH-2) (f) | Homozygous deletion affecting the probes for CDKN2A and CDKN2B. | ||
| DSMZ ACC-220 (KASUMI-1) (m) | Gain affecting the probes for MYC. Heterozygous deletion affecting the probes for CDKN2A, CDKN2B and TP53. Some of the reference probes are also affected by copy number alterations. | ||
| DSMZ ACC-341 (MHH-CALL-2) (f) | Homozygous deletion affecting the probes for CDKN2A and CDKN2B. Some of the reference probes are also affected by copy number alterations. | ||
| DSMZ ACC-591 ( MOLM-20) (f) | Gain affecting the probes for TNFRSF10B, TNFRSF10A, EIF3H and MYC. | ||
| DSMZ ACC-600 ( HNT-34) (f) | Heterozygous deletion affecting the probes for AIM1, SEC63, TNFAIP3, LATS1, IGF2R and PARK2. Gain affecting the probes for EIF3H and MYC. | ||
| DSMZ ACC-765 ( HG-3) (m) | Heterozygous deletion affecting the probes for RB1, FNDC3A and ATP7B. Homozygous deletion affecting the probes for KCNRG, MIR15A, DLEU2 and DLEU7. | ||
| P038-B | 11q region | Coriell NA00959 (m) | Heterozygous duplication affecting probes for ATM, RDX, PPP2R1B and CADM1. |
| Coriell NA15099 (m) | Heterozygous duplication affecting probes for ATM, RDX, PPP2R1B and CADM1. | ||
| 11q region &
14q region |
Coriell NA09596 (m) | Heterozygous deletion affecting probes for ATM, RDX and IGHD. | |
| 13q14 region | Coriell NA05832 (m) | Heterozygous duplication affecting probes for RB1, DLEU2, KCNRG, DLEU1 and ATP7B. | |
| Coriell NA13721 (m) | Heterozygous deletion affecting probes for RB1, DLEU2, KCNRG, DLEU1 and ATP7B. | ||
| Coriell NA14164 (f) | Heterozygous deletion affecting probes for RB1, DLEU2, KCNRG, DLEU1 and ATP7B. | ||
| CD27 | Coriell NA07981 (m) | Homozygous duplication affecting the probe for CD27. | |
| PTEN &
IGHD |
Coriell NA20125 (m) | Heterozygous duplication affecting probes for PTEN. Heterozygous deletion affecting the IGHD probe. | |
| SF3B1 | DSMZ ACC-600 (HNT-34) (f) | Positive for the MSF3B1 c.2098A>G (p.K700E) mutation. | |
| P040-B | 11q region | Coriell NA00959 (m) | Heterozygous duplication of that affects all probes for the 11q region (CTTN, PICALM, ATM, DDX10, PCSK7 and NCAPD3). |
| Coriell NA08618 (m) | Heterozygous duplication of part of the 11q22.3 region, affecting probes for ATM and DDX10. | ||
| Coriell NA09596 (m) | Heterozygous deletion of part of 11q, affecting probes for PICALM, ATM and DDX10. | ||
| Coriell NA15099 (m) | Heterozygous duplication affecting the probes for PICALM, ATM, DDX10, PCSK7 and NCAPD3. | ||
| 12p region | Coriell NA07981 (m) | Heterozygous triplication/ homozygous duplication affecting all probes on 12p (CCND2, CD27 and LRMP). | |
| Coriell NA08035 (m) | Heterozygous duplication affecting all probes on 12p (CCND2, CD27 and LRMP). | ||
| 13q14 region | Coriell NA02718 (f) | Heterozygous duplication affecting the probes for RB1, KCNRG, MIR15A, DLEU2, DLEU1, DLEU7 and ATP7B. | |
| Coriell NA03330 (m) | Heterozygous deletion affecting the probes for RB1, KCNRG, MIR15A, DLEU2, DLEU1, DLEU7 and ATP7B. | ||
| Coriell NA13721 (m) | Heterozygous deletion affecting the probes for RB1, KCNRG, MIR15A, DLEU2, DLEU1, DLEU7 and ATP7B. | ||
| Various | DSMZ ACC-9 (U-266) (m) | Heterozygous deletion affecting the probes for ATM, DDX10, PCSK7 and NCAPD3 on chromosome 11q, the probes for CCND2, CD27 and LRMP on chromosome 12p, the probes for RB1, KCNRG, MIR15A, DLEU2, DLEU1, DLEU7 and ATP7B on chromosome 13q, and the probes for TP53 on chromosome 17p. Some of the reference probe targets are also affected by copy number alterations. | |
| TP53 | DSMZ ACC-203 (SK-N-MC) (f) | Homozygous TP53 exon 2 deletion, and heterozygous deletion of other TP53 exons. Some of the reference probe targets are also affected by copy number alterations. | |
| P041 | See the product page for positive samples. | ||
| P042 | See the product page for positive samples. | ||
| P043 | See the product page for positive samples. | ||
| P044 | See the product page for positive samples. | ||
| P045 | See the product page for positive samples. | ||
| P046 | See the product page for positive samples. | ||
| P047-E | 13q14.11-q21.1 region | Coriell NA03330 (m) | Heterozygous duplication affecting the probes for ENOX1, MED4, ITM2B, RB1, RCBTB2, DLEU1 and PCDH8. RB1 promoter (CpG106) probes: not methylated. RB1 imprinted locus(CpG85) probes: all copies methylated. |
| Coriell NA12606 (m) | Heterozygous duplication affecting the probes for ENOX1, MED4, ITM2B, RB1, RCBTB2, DLEU1 and PCDH8. RB1 promoter (CpG106) probes: not methylated. RB1 imprinted locus(CpG85) probes: two copies methylated. | ||
| Coriell NA13721 (m) | Heterozygous deletion affecting the probes for ENOX1, MED4, ITM2B, RB1, RCBTB2, DLEU1 and PCDH8. RB1 promoter (CpG106) probes: not methylated. RB1 imprinted locus(CpG85) probes: remaining copy not methylated. | ||
| DSMZ ACC-009 (U-266) (m) | Heterozygous deletion affecting the probes for ENOX1, MED4, ITM2B, RB1, RCBTB2, DLEU1 and PCDH8. RB1 promoter (CpG106) probes: not methylated. RB1 imprinted locus(CpG85) probes: remaining copy methylated. Some of the reference probes are affected by CNAs. | ||
| DSMZ ACC-163 (NCI-H929) (f) | Heterozygous deletion affecting the probes for ENOX1, MED4, ITM2B, RB1, RCBTB2, DLEU1 and PCDH8. RB1 promoter (CpG106) probes: not methylated. RB1 imprinted locus(CpG85) probes: remaining copy methylated. Some of the reference probes are affected by CNAs. | ||
| DSMZ ACC-277 (DK-MG) (f) | Heterozygous deletion affecting the probes for ENOX1, MED4, ITM2B, RB1, RCBTB2, DLEU1 and PCDH8. RB1 promoter (CpG106) probes: not methylated. RB1 imprinted locus(CpG85) probes: remaining copy methylated. Some of the reference probes are affected by CNAs. | ||
| DSMZ ACC-410 (MFE-28) (f) | Heterozygous deletion affecting the probes for ENOX1, ITM2B, DLEU1 and PCDH8. Homozygous deletion affecting the probes for RB1 and RCBTB2. No methylation data can be derived as both copies of RB1 gene including the CpG106 and CpG85 are deleted. Some of the reference probes are affected by CNAs. | ||
| 13q14.2-q14.3 region | DSMZ ACC-427 (DU-4475) (f) | Heterozygous deletion affecting the probes for MED4, ITM2B and DLEU1. Homozygous deletion affecting the probes for RB1 and RCBTB2. No methylation data can be derived as both copies of RB1 gene including the CpG106 and CpG85 are deleted. | |
| 13q14.2-q21.1 region | Coriell NA14164 (f) | Heterozygous deletion affecting the probes for MED4, ITM2B, RB1, RCBTB2, DLEU1 and PCDH8. RB1 promoter (CpG106) probes: not methylated. RB1 imprinted locus(CpG85) probes: remaining copy methylated. | |
| P049-C | ABCD1 | Coriell NA17819 (m) | ABCD1 exon 6-10 deletion. |
| P050 | See the product page for positive samples. | ||
| P051 | See the product page for positive samples. | ||
| P052 | See the product page for positive samples. | ||
| P056 | See the product page for positive samples. | ||
| P060 | See the product page for positive samples. | ||
| P061-D | 17p | Coriell NA06047 (m) | Heterozygous 17p deletion (telomere-ASPA-TRPV1). |
| P064 | See the product page for positive samples. | ||
| P065 | See the product page for positive samples. | ||
| P066 | See the product page for positive samples. | ||
| P070 | See the product page for positive samples. | ||
| P072 | See the product page for positive samples. | ||
| P073-A | IKBKG | Coriell NA19225 (f) | Heterozygous deletion of IKBKG exon 4-10 (IKBKGexon4_10del mutation). |
| P077 | See the product page for positive samples. | ||
| P078-D | 6q25 region | Coriell NA07994 (m) | Heterozygous duplication of ESR1. |
| 7p11 region | Coriell NA07081 (m) | Heterozygous duplication of EGFR. | |
| 8p/q | Coriell NA02030 (m) | Heterozygous duplication of ZNF703, FGFR1, ADAM9, IKBKB, PRDM14, MTDH and MYC. | |
| 8p12-p11 region | Coriell NA14485 (m) | Heterozygous duplication of ZNF703, FGFR1, ADAM9 and IKBKB. | |
| 8q13-q24 region | Coriell NA03999 (f) | Heterozygous deletion of MYC. | |
| 11q13 region | Coriell NA00959 (m) | Heterozygous duplication of CCND1 and EMSY. | |
| 16q22 region | Coriell NA12074 (m) | Heterozygous deletion of CDH1. | |
| 17q11-q25 region | Coriell NA16445 (m) | Heterozygous duplication of BIRC5. | |
| 20q13 region | Coriell NA08123 (m) | Heterozygous duplication of AURKA. | |
| Various | DSMZ ACC-180 (HEP-G2) (m) | Gains of ESR1, CDH1, MED1, ERBB2, CDC6, TOP2A, MAPT, PPM1D, BIRC5 and AURKA. | |
| DSMZ ACC-432 (8-MG-BA) (f) | Gains of EGFR, PRDM14, MTDH, MYC, CCND1, EMSY, MAPT, PPM1D, BIRC5, CCNE1 and AURKA. | ||
| P083 | See the product page for positive samples. | ||
| P087 | See the product page for positive samples. | ||
| P088 | See the product page for positive samples. | ||
| P089-B | RRM2B | Coriell NA02030 (m) | Heterozygous duplication of RRM2B. |
| SUCLA2 | Coriell NA02718 (f) | Heterozygous deletion of SUCLA2. | |
| Coriell NA03330 (m) | Heterozygous duplication of SUCLA2. | ||
| TK2 | Coriell NA19401 (f) | Heterozygous TK2 exon 1-2 deletion. | |
| Various | Coriell NA10401 (f) | Heterozygous duplication of MPV17, DGUOK and SUCLG1. | |
| P090 | See the product page for positive samples. | ||
| P091 | See the product page for positive samples. | ||
| P093 | See the product page for positive samples. | ||
| P095 | See the product page for positive samples. | ||
| P098-E | 13q14.3 region | Coriell NA03330 (m) | Heterozygous duplication affecting the probes for ATP7B and ALG11. |
| Coriell NA05258 (f) | Heterozygous positive for the ATP7B H1069Q mutation in exon 14. | ||
| Coriell NA12606 (m) | Heterozygous duplication affecting the probes for ATP7B and ALG11. | ||
| Coriell NA13721 (m) | Heterozygous deletion affecting the probes for ATP7B and ALG11. | ||
| Coriell NA14164 (f) | Heterozygous deletion affecting the probes for ATP7B and ALG11. | ||
| P099-D | GCH1 | Coriell NA05966 (m) | Heterozygous duplication affecting the GCH1 probes. |
| PRRT2 | Coriell NA05875 (f) | Heterozygous deletion affecting the PRRT2 probes. | |
| SGCE | Coriell NA10160 (m) | Heterozygous deletion affecting the SGCE probes. | |
| P102 | See the product page for positive samples. | ||
| P103-C | DPYD | Coriell HG02684 (m) | Homozygous positive for the DPYD c.1905+1G>A (IVS14+1G>A) mutation. |
| Coriell NA07048 (m) | Heterozygous positive for the DPYD c.2846A>T mutation. | ||
| Coriell NA21112 (m) | Heterozygous positive for the DPYD c.1905+1G>A (IVS14+1G>A) mutation. | ||
| P105-D | 7p11.2 region | Coriell NA07081 (m) | Heterozygous duplication affecting the probes for EGFR. |
| 9p21.3 region | Coriell NA01750 (m) | Heterozygous duplication affecting the probes for CDKN2A. | |
| Coriell NA02819 (f) | Heterozygous duplication affecting the probes for CDKN2A. | ||
| Coriell NA03226 (m) | Heterozygous duplication affecting the probes for CDKN2A. | ||
| Coriell NA05067 (m) | Heterozygous duplication affecting the probes for CDKN2A. | ||
| 10q23.31 region | Coriell NA20125(m) | Heterozygous duplication affecting the probes for PTEN. | |
| 14q13.2 region | Coriell NA06801 (f) | Heterozygous duplication affecting the probes for NFKBIA. | |
| 10q23.31 region
17p13.1 region |
DSMZ ACC-203 (SK-N-MC) (f) | Heterozygous deletion affecting the probes for PTEN. Heterozygous deletion affecting the probes for TP53, homozygous deletion affecting the TP53 exon 2a probe. Some of the reference probes are affected by CNAs. | |
| 4q12 region
9p21.3 region 10q23.31 region 12q14-q15 region 14q13.2 region 17p13.1 region |
DSMZ ACC-237 (IGR-37) (m) | Heterozygous deletion affecting the probes for PDGFRA, CDKN2A exons 1 and 2, PTEN, CDK4, MIR26A2, MDM2, NFKBIA and TP53. Homozygous deletion affecting the probes for CDKN2A exons 3 and 4. | |
| 4q12 region
12q14-q15 region 14q13.2 region 17p13.1 region |
DSMZ ACC-243 (SAOS-2) (f) | Heterozygous duplication affecting the probes for PDGFRA. Homozygous duplication affecting the probes for CDK4, MIR26A2, MDM2 and NFKBIA. and TP53. Homozygous deletion affecting the probes for TP53 exon 2a-11. Some of the reference probes are affected by CNAs. | |
| P114 | See the product page for positive samples. | ||
| P118-C | WT1 | Coriell NA05518 (f) | Heterozygous deletion of the WT1 gene. The flanking probes are also affected. |
| Coriell NA06803 (m) | Heterozygous deletion of the WT1 gene. The flanking probes are also affected. | ||
| Coriell NA09709 (m) | Heterozygous deletion of the WT1 gene. The flanking probes are also affected. | ||
| P124 | See the product page for positive samples. | ||
| P125-C | mtDNA | Coriell NA11605 (f) | Positive for the 3460G>A mutation (~95% mutation/~5% wild-type). |
| Coriell NA11906 (f) | Positive for the 8344A>G mutation (~35% mutation/~65% wild-type) | ||
| Coriell NA11907 (f) | Positive for the 8344A>G mutation (~98% mutation/~2% wild-type). | ||
| Coriell NA13411 (m) | Positive for the 8993T>G mutation (100% mutation). | ||
| Coriell NA10744 (m) | Positive for the 11778G>A mutation (100% mutation). | ||
| P137 | See the product page for positive samples. | ||
| P140 | See the product page for positive samples. | ||
| P143-C | MPZ | Coriell NA00803 (m) | Heterozygous deletion affecting all MPZ probes. |
| P147-B | 1p36 region | Coriell NA22995 (m) | 1p36 deletion syndrome; heterozygous telomeric deletion (4.67-5.97 Mb). |
| P155 | See the product page for positive samples. | ||
| P156-B | GALT | Coriell NA05067 (m) | Large heterozygous duplication (6.5 Mb) that includes the complete GALT gene. |
| Coriell NA01741 (m) | Homozygous deletion of the complete GALT gene. The flanking probes are not affected. | ||
| P158 | See the product page for positive samples. | ||
| P163 | See the product page for positive samples. | ||
| P165 | See the product page for positive samples. | ||
| P175-B | 1q32.1 region | Coriell NA05347 (m) | Heterozygous duplication affecting the probes for MDM4. |
| 2p24.3-p23.2 region | Coriell NA10401 (f) | Heterozygous duplication affecting the probes for MYCN and ALK. Some of the reference probes are affected by CNAs. | |
| 2p24.3 region | Coriell NA00945 (f) | Heterozygous deletion affecting the probes for MYCN. | |
| 7p11.2 region | Coriell NA07081 (m) | Heterozygous duplication affecting the probes for EGFR. | |
| 7q31.2 region | Coriell NA01059 (f) | Heterozygous deletion affecting the probes for MET. | |
| 7q31.2-q34 region | Coriell NA12519 (f) | Homozygous duplication/Heterozygous triplication affecting the probes for MET, SMO and BRAF. | |
| 7q34 region | Coriell NA07412 (m) | Heterozygous deletion affecting the probes for BRAF. | |
| 8p11.23 region &
8q24.21 region |
Coriell NA02030 (m) | Heterozygous duplication affecting the probes for FGFR1 and MYC. | |
| 8q24.21 region | Coriell NA03999 (f) | Heterozygous deletion affecting the probes MYC. | |
| 9q34.12 region | Coriell NA13685 (f) | Heterozygous duplication affecting the probes for ABL1. | |
| 12p13.32 region | Coriell NA07981 (m) | Homozygous duplication/Heterozygous triplication affecting the probes for CCND2. | |
| 20q13.2 region | Coriell NA08123 (m) | Heterozygous duplication affecting the probes for AURKA. | |
| Xq12 region | Coriell NA03384 (m) | Homozygous duplication/Heterozygous triplication affecting the probes for AR. | |
| 1q32.1 region &
7q34 region |
DSMZ ACC-427 (DU-4475) (f) | Homozygous duplication / Heterozygous triplication affecting the probes for MDM4. Positive for the BRAF c.1799T>A (p.V600E) mutation. Ambiguous ratios are observed for a gain of 7q32.1-7q34 (including MET, SMO and BRAF genes). | |
| 7p11.2 region &
7q31.2-q34 region & 12p13.32 region & 12q14.1 & 20q13.2 region |
DSMZ ACC-573 (SU-DHL-8)(m) | Heterozygous duplication affecting the probes for EGFR, MET, SMO, BRAF, CCND2 and CDK4. Homozygous duplication / Heterozygous triplication affecting the probes for AURKA. Some of the reference probes are affected by CNAs. | |
| P178 | See the product page for positive samples. | ||
| P183-C | 1q42.3 | Coriell NA05347 (m) | Heterozygous duplication affecting the probes for EDARADD. |
| Coriell NA10020 (f) | Heterozygous deletion affecting the probes for EDARADD. | ||
| 2q35 | Coriell NA01229 (f) | Heterozygous duplication affecting the probes for WNT10A. | |
| Coriell NA10918 (f) | Heterozygous deletion affecting the probes for WNT10A. | ||
| 2q13-q35 | Coriell NA10401 (f) | Heterozygous duplication affecting the probes for EDAR and WNT10A. | |
| P189 | See the product page for positive samples. | ||
| P190 | See the product page for positive samples. | ||
| P198-A | FH | Coriell NA03648 (m) | Heterozygous duplication affecting the probes for FH. |
| Coriell NA05347 (m) | Heterozygous duplication affecting the probes for FH. | ||
| Coriell NA06473 (f) | Heterozygous deletion affecting the probes for FH. | ||
| Coriell NA10020 (f) | Heterozygous deletion affecting the probes for FH. | ||
| P199-B | HEXA | Coriell NA00502 (m) | Heterozygous positive for the HEXA c.1274_1277dupTATC (1278insTATC) and c.1421+1G>C (IVS12+1G>C) mutations. |
| Coriell NA03184 (m) | Heterozygous duplication of the complete HEXA gene. | ||
| P202-C | 14q32.33 | Coriell NA08123 (m) | Heterozygous deletion that includes the probes on 14q32.33 (CEP170B, MTA1, CRIP2, and IGHD). |
| ERG | Coriell NA09868 (f) | Heterozygous deletion that includes the complete ERG gene and its flanking probes. | |
| CDKN2A/2B | Coriell NA01750 (m) | Heterozygous duplication that includes CDKN2A and CDKN2B. | |
| IKZF1 | Coriell NA10925 (m) | Heterozygous deletion that includes the complete IKZF1 gene and it flanking probes. | |
| Coriell NA07081 (m) | Heterozygous duplication that includes the complete IKZF1 gene and it flanking probes. | ||
| P207-C | 13q34 | Coriell NA03089 (f) | Heterozygous duplication affecting the probes for F7. |
| Coriell NA03330 (m) | Heterozygous duplication affecting the probes for F7. | ||
| Coriell NA03887 (f) | Heterozygous deletion affecting the probes for F7. | ||
| Coriell NA05832 (m) | Heterozygous duplication affecting the probes for F7. | ||
| Xq28 | Coriell NA02325 (f) | Heterozygous duplication affecting the probes for F8 exon 1-14. | |
| P213 | See the product page for positive samples. | ||
| P221-C | CRB1 | Coriell NA00214 (m) | Heterozygous deletion of the complete CRB1 gene. |
| CRX | Coriell HG02397 (m) | Heterozygous duplication of the complete CRX gene. | |
| LCA5 | Coriell HG01802 (f) | Heterozygous duplication of the complete LCA5 gene. | |
| Coriell NA10946 (m) | Heterozygous deletion of the complete LCA5 gene. | ||
| P225 | See the product page for positive samples. | ||
| P226 | See the product page for positive samples. | ||
| P229-B | 7p12.2 region | Coriell NA03563 (m) | Heterozygous duplication affecting the probes for OPA1. |
| P236 | See the product page for positive samples. | ||
| P241 | See the product page for positive samples. | ||
| P242-C | PRSS1 | Coriell NA11949 (f) | Heterozygous deletion affecting all PRSS1 probes. |
| 7q34 region | Coriell NA07412 (m) | Heterozygous deletion affecting the probes for BRAF, PRSS1 and CASP2. | |
| Coriell NA12519 (f) | Homozygous duplication affecting the probes for BRAF, PRSS1 and CASP2. | ||
| P244 | See the product page for positive samples. | ||
| P245 | See the product page for positive samples. | ||
| P248 | See the product page for positive samples. | ||
| P250 | See the product page for positive samples. | ||
| P251-C | GABRD | Coriell NA18827 (f) | Heterozygous deletion affecting the GABRD probe. |
| Coriell NA22977 (f) | Heterozygous deletion affecting the GABRD probe. | ||
| 1p36.32-p36.33 region | Coriell NA22991 (f) | Heterozygous deletion affecting the probes for GABRD and TP73. | |
| Coriell NA22995 (m) | Heterozygous deletion affecting the probes for GABRD and TP73. | ||
| 1p36.22-p36.31 region | Coriell NA50276 (m) | Heterozygous deletion affecting the probes for CHD5, PARK7 and KIF1B. | |
| 1q21.2-q44 region | Coriell NA17941 (f) | Heterozygous duplication affecting the probes for LHX4, LIN9 and AKT3. | |
| LHX4 | Coriell NA00214 (m) | Heterozygous deletion affecting the LHX4 probe. | |
| Coriell NA06038 (m) | Heterozygous deletion affecting the LHX4 probe. | ||
| 1q42.12-q44 region | Coriell NA05347 (m) | Heterozygous duplication affecting the probes for LIN9 and AKT3. | |
| AKT3 | Coriell NA06473 (f) | Heterozygous deletion affecting the AKT3 probe. | |
| VHL | Coriell NA03503 (m) | Heterozygous duplication affecting the VHL probe. | |
| Coriell NA10985 (f) | Heterozygous deletion affecting the VHL probe. | ||
| 3p21.31-p25.3 region | Coriell NA04127 (f) | Heterozygous duplication affecting the probes for VHL, TGFBR2, CTNNB1, SEMA3B, RASSF1 and ZMYND10. | |
| CASR | Coriell NA08778 (m) | Heterozygous deletion affecting the CASR probe. | |
| 3q21.1-q26.32 region | Coriell NA03563 (m) | Heterozygous duplication affecting the probes for CASR, ZIC1 and PIK3CA. | |
| 3q24-q26.32 region | Coriell NA11428 (f) | Heterozygous duplication affecting the probes for ZIC1 and PIK3CA. | |
| Coriell NA20022 (m) | Heterozygous duplication affecting the probes for ZIC1 and PIK3CA. | ||
| PIK3CA | Coriell NA10175 (m) | Heterozygous duplication affecting the PIK3CA probe. | |
| CD44 | Coriell NA09709 (m) | Heterozygous deletion affecting the CD44 probe. | |
| PTPRJ | Coriell NA22633 (m) | Heterozygous deletion affecting the PTPRJ probe. | |
| 11q13.2-q23.3 region | Coriell NA00959 (m) | Heterozygous duplication affecting the probes for GSTP1, CNTN5, CASP1, ATM, CADM1, KMT2A, HMBS and THY1. | |
| 11q22.1-q22.3 region | Coriell NA08618 (m) | Heterozygous duplication affecting the probes for CNTN5, CASP1 and ATM. | |
| Coriell NA09596 (m) | Heterozygous deletion affecting the probes for CNTN5, CASP1, ATM. | ||
| 11q22.1-q23.3 region | Coriell NA15099 (m) | Heterozygous duplication affecting the probes for CNTN5, CASP1, ATM, CADM1, KMT2A, HMBS and THY1. | |
| P252-D | TMEM18 | Coriell NA00501 (m) | Heterozygous deletion affecting the TMEM18 probe. |
| TPO | Coriell NA10951 (f) | Heterozygous duplication affecting the TPO probe. | |
| 2p25.3-q33.1 region | Coriell NA10401 (f) | Heterozygous duplication affecting the probes for TMEM18, TPO, NBAS, DDX1, MYCN, ALK, RTN4, DYSF, RPIA, SCN1A, CFLAR, CASP8 and BMPR2. | |
| 2p24.3-p25.3 region | Coriell NA04409 (m) | Heterozygous duplication affecting the probes for TMEM18, TPO, NBAS, DDX1 and MYCN. | |
| 2p24.3 region | Coriell NA00945 (f) | Heterozygous deletion affecting the probes for NBAS, DDX1 and MYCN. | |
| Coriell NA09216 (m) | Heterozygous deletion affecting the probes for NBAS, DDX1 and MYCN. | ||
| SCN1A | Coriell NA10607 (m) | Heterozygous deletion affecting the SCN1A probe. | |
| 2q33.1 region | Coriell NA01229 (f) | Heterozygous duplication affecting the probes for CFLAR, CASP8 and BMPR2. | |
| Coriell NA11213 (f) | Heterozygous deletion affecting the probes for CFLAR, CASP8 and BMPR2. | ||
| PAFAH1B1 | Coriell NA06047 (m) | Heterozygous deletion affecting the PAFAH1B1 probe. | |
| TOB1 | Coriell NA13031 (m) | Heterozygous deletion affecting the TOB1 probe. | |
| 17q25.3 region | Coriell NA16445 (m) | Heterozygous duplication affecting the probes for BIRC5, SECTM1 and TBCD. | |
| P253-D | 4p15.31-p16.3 region | Coriell NA03435 (m) | Heterozygous deletion affecting the probes SPON2, WSF1 and KCNIP4. |
| Coriell NA10947 (f) | Heterozygous duplication affecting the probes for SPON2, WSF1 and KCNIP4. | ||
| 4p13.2-q27 region | Coriell NA00782 (m) | Heterozygous duplication affecting the probes for GNRHR and IL2. | |
| 4q27-q35.2 region | Coriell NA00501 (m) | Heterozygous duplication affecting the probes for IL2, GLRB and KLKB1. | |
| 4q32.1-q35.2 region &
7q36.3 region |
Coriell NA10313 (m) | Heterozygous duplication affecting the probes for GLRB and KLKB1. Heterozygous deletion affecting the SHH probe. | |
| 4q32.1-q35.2 region | Coriell NA03013 (f) | Heterozygous deletion affecting the probes for GLRB and KLKB1. | |
| GHRHR | Coriell NA08763 (m) | Heterozygous deletion affecting the GHRHR probe. | |
| 7p11.2-p15.1 region | Coriell NA07081 (m) | Heterozygous duplication affecting the probes for GHRHR and EGFR. | |
| ELN | Coriell NA12590 (m) | Heterozygous deletion affecting the ELN probe. | |
| 7q11.23-q21.2 region | Coriell NA10160 (m) | Heterozygous deletion affecting the probes for ELN and KRIT1. | |
| IMPDH1 | Coriell NA12519 (f) | Homozygous duplication affecting the IMPDH1 probe. | |
| SHH | Coriell NA01220 (f) | Heterozygous duplication affecting the SHH probe. | |
| PTPRD | Coriell NA10989 (m) | Heterozygous deletion affecting the probes for PTPRD. | |
| 9p21.3-p24.1 region | Coriell NA01750 (m) | Heterozygous duplication affecting the probes for PTPRD and CDKN2A. | |
| 9p13.3-p24.1 region | Coriell NA02819 (f) | Heterozygous duplication affecting the probes for PTPRD, CDKN2A and DNAI1. | |
| 9q34.13 region | Coriell NA13685 (f) | Heterozygous duplication affecting the probes for POMT1 and TSC1. | |
| 12p11.21-p13.33 region | Coriell NA07981 (m) | Homozygous duplication affecting the probes for ERC1, CDKN1B and PKP2. | |
| NFKBIA | Coriell NA06801 (f) | Heterozygous duplication affecting the NFKBIA probe. | |
| ALT | Coriell NA09888 (f) | Heterozygous deletion affecting the ALT probe. | |
| P256 | See the product page for positive samples. | ||
| P258-C | SMARCB1 | Coriell NA02325 (f) | Heterozygous duplication affecting the probes for TBX1, DGCR8, SNAP29, LZTR1, PPIL2, GNAZ, SMARCB1, SNRPD3, SEZ6L and NIPSNAP1. |
| Coriell NA07106 (m) | Heterozygous duplication affecting the probes for TBX1, DGCR8, SNAP29, LZTR1, PPIL2, GNAZ, SMARCB1, SNRPD3, SEZ6L and NIPSNAP1. | ||
| DSMZ ACC-808 (KP-363T) (m) | Heterozygous deletion affecting the probes for TBX1, DGCR8, SNAP29, LZTR1, PPIL2, GNAZ, SMARCB1, SNRPD3, SEZ6L and NIPSNAP1. Some of the reference probes are affected by CNAs. | ||
| P260 | See the product page for positive samples. | ||
| P278-D | PCCA | Coriell NA06312 (m) | Heterozygous deletion of the complete PCCA gene. |
| Coriell NA22208 (f) | Heterozygous PCCA exon 13-20 deletion. | ||
| P292-B | PCDH15 | Coriell NA11672 (m) | Heterozygous deletion affecting all PCDH15 probes. |
| P294-C | 1p36.32-p36.33 region | Coriell NA22991 (f) | Heterozygous deletion affecting the probes for TNFRSF4 and PRDM16. |
| 1p36.22-p36.31 region | Coriell NA50276 (m) | Heterozygous deletion affecting the probes for CHD5, CAMTA1 and KIF1B. | |
| 1p36.22-p36.33 region &
3p14.2-p25.3 region & 10q23.31 region & 17p13.1 region |
DSMZ ACC-203 (SK-N-MC) (f) | Subclonal gain (ratios around 1.3) affecting the probes for TNFRSF4, PRDM16, CHD5, CAMTA1 and KIF1B. Heterozygous deletion affecting the probes for VHL, FHIT, PTEN and TP53. Some of the reference probes are affected by CNAs. | |
| 3p25.3 region | Coriell NA03503 (m) | Heterozygous duplication affecting the probes for VHL. | |
| Coriell NA10985 (f) | Heterozygous deletion affecting the probes for VHL. | ||
| 5q22.2 region | Coriell NA14234 (m) | Heterozygous deletion affecting the probes for APC. | |
| 9p21.3 region | Coriell NA02819 (f) | Heterozygous duplication affecting the probes for CDKN2A and CDKN2B. | |
| 9q22.32 region | Coriell NA09834 (f) | Heterozygous deletion affecting the probes for PTCH1. | |
| 9q34.13 region | Coriell NA13685 (f) | Heterozygous duplication affecting the probes for TSC1. | |
| 10q23.31 region | Coriell NA20125 (m) | Heterozygous duplication affecting the probes for PTEN. | |
| 11p13 region | Coriell NA09709 (m) | Heterozygous deletion affecting the probes for WT1. | |
| 13q13.1-q14.2 region | Coriell NA12606 (m) | Heterozygous duplication affecting the probes for BRCA2, RB1, MIR15A and DLEU1. | |
| 13q14.2-q14.3 region | Coriell NA14164 (f) | Heterozygous deletion affecting the probes for RB1, MIR15A and DLEU1. | |
| 16p13.3 region &
22q11.23 region |
Coriell NA02325 (f) | Heterozygous duplication affecting the probes for TSC2 and SMARCB1. | |
| 17q21.31 region | Coriell NA18949 (f) | Heterozygous deletion affecting the BRCA1 exon 15 probe. | |
| 18q21.2 | Coriell NA07891 (m) | Heterozygous deletion affecting the probes for SMAD4. | |
| 18q21.2 region &
Xq11.1 region |
Coriell NA02325 (f) | Heterozygous duplication affecting the probes for SMAD4 and AMER1. | |
| P297-D | 3q29 region | Coriell NA03563 (m) | Heterozygous duplication affecting the probes for RNF168, FBXO45, PAK2 and DLG1. |
| Coriell NA10175 (m) | Heterozygous duplication affecting the probes for RNF168, FBXO45, PAK2 and DLG1. | ||
| Coriell NA11428 (f) | Heterozygous duplication affecting the probes for RNF168, FBXO45, PAK2 and DLG1. | ||
| Coriell NA22976 (m) | Heterozygous duplication affecting the probes for RNF168, FBXO45, PAK2 and DLG1. | ||
| 15q13.1 – 15q24.2 region | Coriell NA03184 (m) | Heterozygous duplication affecting the probes for TJP1, ARHGAP11B, FAN1, TRPM1, KLF13, OTUD7A, CHRNA7, SCG5, PML, STRA6, EDC3 and SIN3A. | |
| 16p13.11 region | Coriell NA13685 (f) | Heterozygous deletion affecting the probes for MARF1, MYH11 and ABCC6. | |
| 16p13.11 – 16p12.1 region | Coriell NA06226 (m) | Heterozygous duplication affecting the probes for MARF1, MYH11, ABCC6, XYLT1, UQCRC2, VWA3A and CDR2. | |
| Coriell NA08039 (m) | Heterozygous duplication affecting the probes for MARF1, MYH11, ABCC6, XYLT1, UQCRC2, VWA3A, CDR2, PALB2 and LCMT1. | ||
| 16p12.1 – 16p11.2 region | Coriell NA05875 (f) | Heterozygous deletion affecting the probes for IL21R, ATXN2L, RABEP2, LAT, MAZ, MVP, HIRIP3 and MAPK3 . | |
| P298-A | BRAF | Coriell NA01220 (f) | Heterozygous duplication affecting all BRAF probes. |
| Coriell NA07412 (m) | Heterozygous deletion affecting all BRAF probes. | ||
| Coriell NA08808 (m) | Heterozygous deletion affecting all BRAF probes. | ||
| Coriell NA12519 (f) | Homozygous duplication/Heterozygous triplication affecting all BRAF probes. | ||
| HRAS | Coriell NA03435 (m) | Heterozygous duplication affecting all HRAS probes. | |
| KRAS | Coriell NA07981 (m) | Homozygous duplication/Heterozygous triplication affecting all KRAS probes. | |
| P301-B | 6p22.3 region | Coriell NA12721 (f) | Heterozygous duplication affecting the probes forE2F3 and SOX4. |
| 6q15 region | Coriell NA01221 (m) | Heterozygous duplication affecting the MAP3K7 probe. | |
| 6q23.2-q23.3 region | Coriell NA09367 (f) | Heterozygous duplication affecting the probes for SGK1 and MYB. | |
| 6q23.3-q26 region | Coriell NA07994 (m) | Heterozygous duplication affecting the probes for MYB, MYCT1 and MAP3K4. | |
| 6q26 region | Coriell NA06802 (m) | Heterozygous deletion affecting the MAP3K4 probe. | |
| 14q23.1-q24.3 region | Coriell NA05966 (m) | Heterozygous duplication affecting the probes for OTX2 and MLH3. | |
| 16p11.2 region | Coriell NA05875 (f) | Heterozygous deletion affecting the TGFB1I1 probe. | |
| 16p13.3 region | Coriell NA02325 (f) | Heterozygous duplication affecting the probes for AXIN1 and MEFV. | |
| Coriell NA06226 (m) | Heterozygous duplication affecting the probes for AXIN1 and MEFV. | ||
| Coriell NA08039 (m) | Heterozygous duplication affecting the MEFV probe. | ||
| Coriell NA13284 (m) | Heterozygous duplication affecting the AXIN1 probe. | ||
| 16p13.3 region &
16q22.3-q24.3 region |
Coriell NA09687 (m) | Heterozygous deletion affecting the AXIN1 probe. Heterozygous duplication affecting the probes for ZFHX3 and FANCA. | |
| 16q22.3 region | Coriell NA12074 (m) | Heterozygous deletion affecting the ZFHX3 probe. | |
| 17p11.2 region | Coriell NA13476 (f) | Heterozygous deletion affecting the PRPSAP2 probe. | |
| 17p13.2-p13.3 region | Coriell NA06047 (m) | Heterozygous deletion affecting the probes for HIC1, PAFAH1B1 and ATP2A3. | |
| 17q25.3 region | Coriell NA16445 (m) | Heterozygous duplication affecting the probes for TK1, BIRC5, ARHGDIAand RAC3. | |
| P302-A | 2p25.3-q37.3 region | Coriell NA10401 (f) | Heterozygous duplication affecting the probes for TMEM18, NBAS, MYCN, ALK, RTN4, RPIA, IL1RN, RPRM, BMPR2 and ATG4B. |
| 2p23.2-p25.3 region | Coriell NA01353 (m) | Heterozygous duplication affecting the probes for TMEM18, NBAS, MYCN and ALK. | |
| 2p24.3-p25.3 region | Coriell NA04409 (m) | Heterozygous duplication affecting the probes for TMEM18, NBAS and MYCN. | |
| 2p25.3 region | Coriell NA00501 (m) | Heterozygous deletion affecting the TMEM18 probe. | |
| 2p24.3 region | Coriell NA00945 (f) | Heterozygous deletion affecting the probes for NBAS and MYCN. | |
| Coriell NA09216 (m) | Heterozygous deletion affecting the probes for NBAS and MYCN. | ||
| 2q33.1-q37.3 region | Coriell NA01229 (f) | Heterozygous duplication affecting the probes for BMPR2 and ATG4B. | |
| 2q37.3 region | Coriell NA22770 (m) | Heterozygous deletion affecting the ATG4B probe. | |
| 3p21.31-p26.3 region | Coriell NA04127 (f) | Heterozygous duplication affecting the probes for CRBN, PPARG, CTNNB1 and RASSF1. | |
| 3p26.3 region | Coriell NA10985 (f) | Heterozygous deletion affecting the CRBN probe. | |
| 3p26.3 region &
3q24-q27.1 region |
Coriell NA11428 (f) | Heterozygous deletion affecting the CRBN probe. Heterozygous duplication affecting the probes for ZIC1, SLITRK3 and MCCC1. | |
| 3q13.33 region | Coriell NA08778 (m) | Heterozygous deletion affecting the CASR probe. | |
| 3q13.33-q27.1 region | Coriell NA03563 (m) | Heterozygous duplication affecting the probes for CASR, ZIC1, SLITRK3 and MCCC1. | |
| 3q27.1 region &
9p24.1-q34.3 region |
Coriell NA22976 (m) | Heterozygous duplication affecting the probes for MCCC1, PTPRD, CDKN2A, CDKN2B, IGFBPL1, TRPM3, ALDOB, DEC1 and EHMT1. | |
| 7p11.2-p22.3 region | Coriell NA07081 (m) | Heterozygous duplication affecting the probes for MAFK, GHRHR and EGFR. | |
| 7p15.1 region | Coriell NA08763 (m) | Heterozygous deletion affecting the GHRHR probe. | |
| 7q11.23 region | Coriell NA12590 (m) | Heterozygous deletion affecting the ELN probe. | |
| 7q11.23-q21.2 region | Coriell NA10160 (m) | Heterozygous deletion affecting the probes for ELN and CDK6. | |
| 7q32.1 region | Coriell NA12519 (f) | Heterozygous triplication / homozygous duplication affecting the IMPDH1 probe. | |
| 7q36.3 region | Coriell NA07412 (m) | Heterozygous deletion affecting the SHH probe. | |
| Coriell NA01220 (f) | Heterozygous duplication affecting the SHH probe. | ||
| Coriell NA10313 (m) | Heterozygous deletion affecting the SHH probe. | ||
| 9p21.3-p24.1 region | Coriell NA02819 (f) | Heterozygous duplication affecting the probes for PTPRD, CDKN2A and CDKN2B. | |
| Coriell NA01750 (m) | Heterozygous duplication affecting the probes for PTPRD, CDKN2A and CDKN2B. | ||
| 9p13.1-p24.1 region | Coriell NA03226 (m) | Heterozygous duplication affecting the probes for PTPRD, CDKN2A, CDKN2B, IGFBPL1. | |
| Coriell NA05067 (m) | Heterozygous duplication affecting the probes for PTPRD, CDKN2A, CDKN2B, IGFBPL1. | ||
| 9q34.3 region | Coriell NA13685 (f) | Heterozygous duplication affecting the EHMT1 probe. | |
| P303-A | 1p36.32 region | Coriell NA22995 (m) | Heterozygous deletion affecting the TP73 probe. |
| 1q32.1 region | Coriell NA00214 (m) | Heterozygous deletion affecting the KIF14 probe. | |
| 1q32.1-q44 region | Coriell NA17941 (f) | Heterozygous duplication affecting the probes for KIF14, LIN9 and SH3BP5L. | |
| 1q42.12-q44 region | Coriell NA05347 (m) | Heterozygous duplication affecting the probes for LIN9 and SH3BP5L. | |
| 4q13.2 region | Coriell NA00782 (m) | Heterozygous duplication affecting the GNRHR probe. | |
| 5q22.2 region | Coriell NA14234 (m) | Heterozygous deletion affecting the APC probe. | |
| 8p23.1 region | Coriell NA10932 (m) | Heterozygous deletion affecting the PINX1 probe. | |
| 8p23.1-q24.3 region | Coriell NA02030 (m) | Heterozygous duplication affecting the probes for PINX1, GNRH1, FGFR1, CHD7, MYC and PTP4A3. | |
| 8p12-p21.2 region | Coriell NA14485 (m) | Heterozygous duplication affecting the probes for GNRH1 and FGFR1. | |
| 8q24.21 region | Coriell NA03999 (f) | Heterozygous deletion affecting the MYC probe. | |
| 8q24.3 region | Coriell NA20263 (m) | Heterozygous duplication affecting the PTP4A3 probe. | |
| 10p15.1 region | Coriell NA06936 (f) | Heterozygous deletion affecting the KLF6 probe. | |
| 10q23.31-q26.13 region | Coriell NA20125 (m) | Heterozygous duplication affecting the probes for PTEN, SUFU, MXI1 and DMBT1. | |
| 10q24.32-q26.13 region | Coriell NA00959 (m) | Heterozygous duplication affecting the probes for SUFU, MXI1 and DMBT1. | |
| 10q26.13 region | Coriell NA05299 (f) | Heterozygous deletion affecting the DMBT1 probe. | |
| 20p11.21-p12.2 region | Coriell NA00981 (f) | Heterozygous duplication affecting the probes for JAG1 and PYGB. | |
| 20p12.2 region | Coriell NA10608 (m) | Heterozygous deletion affecting the JAG1 probe. | |
| 20q11.23 region | Coriell NA07945 (m) | Heterozygous deletion affecting the NNAT probe. | |
| 1q32.1-q42.12 region &
8q24.21 region |
DSMZ ACC-740 (HD-MB03) (m) | Gain affecting the probes for KIF14, LIN9 and MYC. | |
| P305-B | 2q37.3 region | Coriell NA01229 (f) | Heterozygous duplication affecting the probes for AGXT. |
| Coriell NA14943 (m) | Heterozygous deletion affecting the probes for AGXT. | ||
| 9p13.2 region | Coriell NA05067 (m) | Heterozygous deletion affecting the probes for GRHPR. | |
| P308-B | MET | Coriell NA01059 (f) | Heterozygous deletion affecting all probes for MET. Flanking probes on 7q31.2 are also affected. |
| Coriell NA12519 (f) | Homozygous duplication affecting all probes for MET. Flanking probes on 7q31.2 are also affected. | ||
| PTEN | Coriell NA20125 (m) | Heterozygous duplication affecting all probes for PTEN. | |
| P315-C | EGFR | Coriell NA07081 (m) | Heterozygous duplication of the complete EGFR gene. |
| DSMZ ACC-444 (FU-OV-1) (f) | Loss of EGFR. | ||
| P319-B | 2p25.3 region &
2q13 region |
Coriell NA10401 (f) | Heterozygous duplication affecting the probes for TPO and PAX8. |
| 2q13 region | Coriell NA13590 (f) | Heterozygous duplication affecting the probes for PAX8. | |
| 14q13.3 region | Coriell NA06801 (f) | Heterozygous duplication affecting the probes for NKX2-1. | |
| Coriell NA22765 (m) | Heterozygous deletion affecting the probes for NKX2-1. | ||
| 14q31.1 region | Coriell NA16593 (f) | Heterozygous deletion affecting the probes for TSHR Exon 1-8. | |
| P323-B | 12p &
12q |
DSMZ ACC-200 (COLO-824) (f) | Gain affecting the probes for FOXM1, CCND2 exon 1,CDKN1B, KRAS and KIF21A. Loss affecting the probes for COL2A1, MAP3K12, CDK2, STAT6, GLI1, DDIT3, TSPAN31, CDK4 and CHFR. Some of the reference probes are also affected by CNAs. |
| 12q | DSMZ ACC-237 (IGR-37) (m) | Loss affecting the probes for KIF21A, COL2A1, MAP3K12, CDK2, STAT6, GLI1, DDIT3, TSPAN31, CDK4, MIR26A2, HMGA2, MDM2, YEATS4, ALX1, IGF1, PTPN11, TBX5, HNF1A, PIWIL1, RAN and CHFR. Some of the reference probes are also affected by CNAs. | |
| DSMZ ACC-277 (DK-MG) (f) | Amplification affecting the probes for MDM2. Some of the reference probes are also affected by CNAs. | ||
| DSMZ ACC-517 (HCC-1143) (f) | Gain affecting the probes for STAT6, GLI1, DDIT3, TSPAN31, CDK4 and MIR26A2. Amplification affecting the probes for HMGA2, MDM2 and YEATS4. Some of the reference and flanking probes are also affected by CNAs. | ||
| DSMZ ACC-566 (HCC-827) (f) | Amplification affecting the probes for CDK4, TSPAN31 and HMGA2 exon 1-3. Some of the reference probes are also affected by CNAs. | ||
| Coriell NA02819 (f) | Heterozygous deletion affecting the probes for PIWIL1, RAN and CHFR. | ||
| Coriell NA07981 (m) | Mosaic homozygous duplication affecting the probes for PFOXM1, CCND2, CDKN1B and KRAS. | ||
| Coriell NA08035 (m) | Heterozygous duplication affecting the probes for PFOXM1, CCND2, CDKN1B and KRAS. | ||
| P324-B | 22q11.21 region | Coriell NA05401 (m) | Heterozygous deletion from LCR-A to LCR-B and of the Cat Eye Syndrome region. |
| Coriell NA07215 (f) | Heterozygous deletion of the typically deleted region (TDR), from LCR-A to LCR-D. | ||
| Coriell NA10382 (m) | Heterozygous deletion of the typically deleted region (TDR), from LCR-A to LCR-D. | ||
| Coriell NA17942 (m) | Heterozygous deletion of the typically deleted region (TDR), from LCR-A to LCR-D. | ||
| P327-B | 21q11.2-q21.3 region | Coriell NA00692 (m) | Heterozygous deletion affecting the HSPA13, SAMSN1, MIR99A, BTG3, TMPRSS15, NCAM2, MIR155 and APP probes. |
| 21q11.2-q22.3 region | Coriell NA02571 (f) | Trisomy 21. All probes targeting chromosome 21 are affected. | |
| 21q11.2-q21.1 region | Coriell NA03503 (m) | Heterozygous duplication affecting the HSPA13, SAMSN1, MIR99A, BTG3, TMPRSS15 and NCAM2 probes. | |
| 21q11.2-q22.11 region &
21q22.3 region |
Coriell NA05881 (f) | Heterozygous duplication affecting the HSPA13, SAMSN1, MIR99A, BTG3, TMPRSS15, NCAM2, MIR155, APP, CYYR1, ADAMTS5, BACH1, TIAM1 and PRMT2 probes. | |
| 21q21.3 region | Coriell NA08331 (m) | Heterozygous deletion affecting the APP, CYRR1 and ADAMTS5 probes. | |
| 21q22.13-q22.3 region | Coriell NA09868 (f) | Heterozygous deletion affecting the SIM2, HLCS, DYRK1A, KCNJ6, ERG, ETS2, PSMG1, TMPRSS2, RIPK4, TFF1, ITGB2, SLC19A1, COL6A2 and PRMT2 probes. | |
| 21q22.11 region | Coriell NA13031 (m) | Heterozygous duplication affecting the KCNE2 probe. | |
| P329-B | Xp22.33 / Yp11.32 region | Coriell NA03623 (f) | Heterozygous duplication affecting the probes for SHOX, CRLF2, CSF2RA, IL3RA, P2RY8, ZBED1 and CD99. |
| Coriell NA04626 (f) | Heterozygous duplication affecting the probes for SHOX, CRLF2, CSF2RA, IL3RA, P2RY8, ZBED1 and CD99. | ||
| Coriell NA09403 (f) | Heterozygous deletion affecting the probes for SHOX, CRLF2, CSF2RA, IL3RA, P2RY8, ZBED1 and CD99. | ||
| Coriell NA13019 (f) | Heterozygous deletion affecting the probes for SHOX, CRLF2, CSF2RA, IL3RA, P2RY8, ZBED1 and CD99. | ||
| Coriell NA14523 (f) | Heterozygous deletion affecting the probes for SHOX, CRLF2, CSF2RA, IL3RA, P2RY8, ZBED1 and CD99. | ||
| Coriell NA20027 (f) | Heterozygous deletion affecting the probes for SHOX, CRLF2, CSF2RA, IL3RA, P2RY8, ZBED1 and CD99. | ||
| P335 | See the product page for positive samples. | ||
| P337-C | 16p13 region | Coriell NA04520 (f) | Heterozygous deletion affecting the probes for TSC2 exon 1-15. |
| Coriell NA06226 (m) | Homozygous duplication affecting the probes for TSC2 and PKD1. | ||
| P338-B | GBA | Coriell NA20273 (m) | Homozygous absence of GBA exon 10. |
| P348-C | ATP1A2 | Coriell NA00803 (m) | Heterozygous deletion affecting all ATP1A2 probes. |
| PRRT2 | Coriell NA05875 (f) | Heterozygous deletion affecting all PRRT2 probes. | |
| P351 | See the product page for positive samples. | ||
| P352 | See the product page for positive samples. | ||
| P357-A | 2p25.1 region | Coriell NA00945 (f) | Heterozygous deletion affecting all KLF11 probes. |
| Coriell NA01353 (m) | Heterozygous duplication affecting all KLF11 probes. | ||
| Coriell NA04409 (m) | Heterozygous duplication affecting all KLF11 probes. | ||
| 2p25.1-q31.3 region | Coriell NA10401 (f) | Heterozygous duplication affecting the probes for KLF11 and NEUROD1. | |
| 2q31.3 region | Coriell NA03918 (f) | Heterozygous duplication affecting all NEUROD1 probes. | |
| 7q32.1 region | Coriell NA12519 (f) | Heterozygous duplication affecting all PAX4 probes. | |
| 9q34.2 region | Coriell NA13685 (f) | Heterozygous duplication affecting all CEL probes. | |
| 13q12.2 region | Coriell NA03330 (m) | Heterozygous duplication affecting all PDX1 probes. | |
| Coriell NA12606 (m) | Heterozygous duplication affecting all PDX1 probes. | ||
| 17q12 region | Coriell NA20359 (f) | Heterozygous duplication affecting all HNF1B probes. | |
| P369-A | 17p11.2 region | Coriell NA13476 (f) | Heterozygous deletion of the common chromosome 17p11.2 deletion/duplication region. |
| P370-C | 3p25.1-p26.3 region | Coriell NA03503 (m) | Heterozygous duplication affecting the CRBN, SRGAP3 and RAF1 probes. |
| Coriell NA04127 (f) | Heterozygous duplication affecting the CRBN, SRGAP3 and RAF1 probes. | ||
| 3p25.3-p26.3 region | Coriell NA10985 (f) | Heterozygous deletion affecting the CRBN and SRGAP3 probes. | |
| 6q22.33-q23.3 region | Coriell NA09367 (f) | Heterozygous duplication affecting the LAMA2 and MYB probes. | |
| 6q23.3-q24.2 region | Coriell NA07994 (m) | Heterozygous duplication affecting the MYB and PLAGL1 probes. | |
| 7q34-q35 region | Coriell NA07412 (m) | Heterozygous deletion affecting the KIAA1549, HIPK2, MKRN1, BRAF and CNTNAP2 probes. | |
| Coriell NA08808 (m) | Heterozygous deletion affecting the KIAA1549, HIPK2, MKRN1, BRAF and CNTNAP2 probes. | ||
| Coriell NA12519 (f) | Heterozygous triplication / Homozygous duplication affecting the KIAA1549, HIPK2, MKRN1, BRAF and CNTNAP2 probes. | ||
| Coriell NA01220 (f) | Heterozygous duplication affecting the MKRN1, BRAF and CNTNAP2 probes. | ||
| 8p11.23-p12 region | Coriell NA14485 (m) | Heterozygous duplication affecting the FGFR1 and TACC1 probes. | |
| 8p12-q13.1 region | Coriell NA02030 (m) | Heterozygous duplication affecting the FGFR1, TACC1 and MYBL1 probes. | |
| 9p21.3 region | Coriell NA01750 (m) | Heterozygous duplication affecting the MIR31, CDKN2A and CDKN2B probes. | |
| Coriell NA02819 (f) | Heterozygous duplication affecting the MIR31, CDKN2A and CDKN2B probes. | ||
| Coriell NA03226 (m) | Heterozygous duplication affecting the MIR31, CDKN2A and CDKN2B probes. | ||
| Coriell NA05067 (m) | Heterozygous duplication affecting the MIR31, CDKN2A and CDKN2B probes. | ||
| P377-B | 2p23.2-p24.3 region | Coriell NA01353 (m) | Heterozygous duplication affecting the probes for ALK and MYCN. |
| 2p24.3 region | Coriell NA00945 (f) | Heterozygous deletion affecting the probes for MYCN. | |
| Coriell NA04409 (m) | Heterozygous duplication affecting the probes for MYCN. | ||
| 5q33.3 region | Coriell NA04371 (m) | Heterozygous duplication affecting the probes for EBF1 and MIR146A. | |
| 6q21 region | Coriell NA01221 (m) | Heterozygous duplication affecting the FYN probe. | |
| 6q21-q23.3 region | Coriell NA09367 (f) | Heterozygous duplication affecting the probes for FYN and MYB. | |
| 6q23.3-q27 region | Coriell NA07994 (m) | Heterozygous duplication affecting the probes for MYB, ESR1 and SMOC2. | |
| 6q27 region | Coriell NA08386 (f) | Heterozygous deletion affecting the SMOC2 probe. | |
| 7p12.2 region | Coriell NA07081 (m) | Heterozygous duplication affecting the probes for IKZF1. | |
| Coriell NA10925 (m) | Heterozygous deletion affecting the probes for IKZF1. | ||
| 7q21.2 region | Coriell NA10160 (m) | Heterozygous deletion affecting the CDK6 probe. | |
| 7q31.2 region | Coriell NA12519 (f) | Heterozygous triplication/homozygous duplication affecting the MET probe. | |
| 7q36.2 region | Coriell NA10313 (m) | Heterozygous deletion affecting the DPP6 probe. | |
| 8q24.21 region | Coriell NA02030 (m) | Heterozygous duplication affecting the probes for MYC. | |
| Coriell NA03999 (f) | Heterozygous deletion affecting the probes for MYC. | ||
| 9p13.2-p21.3 region | Coriell NA03226 (m) | Heterozygous duplication affecting the probes for MTAP, CDKN2A, CDKN2B and PAX5. | |
| Coriell NA05067 (m) | Heterozygous duplication affecting the probes for MTAP, CDKN2A, CDKN2B and PAX5. | ||
| 9p21.3 region | Coriell NA01750 (m) | Heterozygous duplication affecting the probes for MTAP, CDKN2A and CDKN2B. | |
| Coriell NA02819 (f) | Heterozygous duplication affecting the probes for MTAP, CDKN2A and CDKN2B. | ||
| 10q23.31 region | Coriell NA20125 (m) | Heterozygous duplication affecting the probes for PTEN. | |
| 11q22.3 region | Coriell NA08618 (m) | Heterozygous duplication affecting the probes for ATM. | |
| Coriell NA09596 (m) | Heterozygous deletion affecting the probes for ATM. | ||
| 12p13.2-p13.32 region | Coriell NA07981 (m) | Heterozygous triplication/homozygous duplication affecting the probes for CCND2 and ETV6. | |
| Coriell NA08035 (m) | Heterozygous duplication affecting the probes for CCND2 and ETV6. | ||
| 13q14.2-q14.3 region | Coriell NA05832 (m) | Heterozygous duplication affecting the probes for RB1, MIR15A, DLEU2 and DLEU1. | |
| Coriell NA14164 (f) | Heterozygous deletion affecting the probes for RB1, MIR15A, DLEU2 and DLEU1. | ||
| 18p11.21 region | Coriell NA06870 (f) | Heterozygous triplication/homozygous duplication affecting the RNMT probe. | |
| Coriell NA50322 (f) | Heterozygous deletion affecting the RNMT probe. | ||
| 18p11.21-q21.2 region | Coriell NA01359 (m) | Heterozygous duplication affecting the probes for RNMT and DCC. | |
| Coriell NA03623 (f) | Heterozygous duplication affecting the probes for RNMT and DCC. | ||
| 18q21.2 region | Coriell NA07891 (m) | Heterozygous deletion affecting the DCC probe. | |
| 9p21.3 region &
18p11.21-q21.2 region |
Coriell NA12722 (m) | Heterozygous duplication affecting the probes for MTAP, CDKN2A, CDKN2B, RNMT and DCC. | |
| 7p12.2-q36.2 region &
8q24.21 region & 9p24.1 region |
Coriell NA23245 (f) | Heterozygous deletion affecting the probes for IKZF1, CDK6, RELN, MET and DPP6. Heterozygous duplication affecting the probes for MYC. Positive for the JAK2 p.V617F mutation. | |
| 7p12.2-q36.2 region &
9p24.1 region & 18q21.2 region |
Horizon Discovery JAK2 p.V617F 50% reference standard | Heterozygous duplication affecting the probes for IKZF1, CDK6, RELN, MET, DPP6 and DCC. Positive for the JAK2 p.V617F mutation. | |
| 7p12.2-q36.2 region &
18q21.2 region |
JAK2 p.V617F 0% (wild-type) reference standard | Heterozygous duplication affecting the probes for IKZF1, CDK6, RELN, MET, DPP6 and DCC. | |
| P378 | See the product page for positive samples. | ||
| P380-B | 1p36.33 region | Coriell NA22977 (f) | Heterozygous deletion affecting the TNFRSF18 probe. |
| 1p36.31-p36.33 region | Coriell NA22976 (m) | Heterozygous deletion affecting the probes for TNFRSF18 and CHD5. | |
| 1p36.23-p36.31 region | Coriell NA50276 (m) | Heterozygous deletion affecting the probes for CHD5 and MIR34A. | |
| 1q23.3 region | Coriell NA00803 (m) | Heterozygous deletion affecting the MPZ probe. | |
| 1q43 region | Coriell NA06473 (f) | Heterozygous deletion affecting the SDCCAG8 probe. | |
| 2p24.3-q36.1 region | Coriell NA10401 (f) | Heterozygous duplication affecting the probes for MYCN, DYSF and PAX3. | |
| 2p24.3 region | Coriell NA00945 (f) | Heterozygous deletion affecting the probes for MYCN. | |
| 4q22.1 region | Coriell NA10800 (m) | Heterozygous deletion affecting the PKD2 probe. | |
| 4q31.3 region | Coriell NA00501 (m) | Heterozygous duplication affecting the probes for FBXW7. | |
| Coriell NA10313 (m) | Heterozygous duplication affecting the probes for FBXW7. | ||
| 11p13 region | Coriell NA09709 (m) | Heterozygous duplication affecting the probes for WT1. | |
| 16p13.11-p13.3 region | Coriell NA06226 (m) | Heterozygous duplication affecting the probes for CREBBP and ABCC6. | |
| Coriell NA08039 (m) | Heterozygous duplication affecting the probes for CREBBP and ABCC6. | ||
| 16p13.11 region | Coriell NA13685 (f) | Heterozygous deletion affecting the ABCC6 probe. | |
| 16p11.2 region | Coriell NA05875 (f) | Heterozygous deletion affecting the VKORC1 probe. | |
| 16q22.1 region | Coriell NA12074 (f) | Heterozygous deletion affecting the CDH1 probe. | |
| 16q23.2-q24.3 region | Coriell NA09687 (m) | Heterozygous duplication affecting the probes for MLYCD and FANCA. | |
| Xp22.12-q21.2 region | Coriell NA01416 (f) | Heterozygous triplication/homozygous duplication affecting the probes for RPS6KA3, AMER1 and CHM. | |
| P383-A | 4q25 region | Coriell NA00501 (m) | Heterozygous duplication affecting the LEF1 probes. |
| Coriell NA00782 (m) | Heterozygous duplication affecting the LEF1 probes. | ||
| 6q15 region | Coriell NA01221 (m) | Heterozygous duplication affecting the CASP8AP2 probes. | |
| 6q23.3 region | Coriell NA07994 (m) | Heterozygous duplication affecting the probes for MYB and AHI1. | |
| Coriell NA09367 (f) | Heterozygous duplication affecting the probes for MYB and AHI1. | ||
| 7q36.1 region | Coriell NA01220 (f) | Heterozygous duplication affecting the EZH2 probes. | |
| Coriell NA07412 (m) | Heterozygous deletion affecting the EZH2 probes. | ||
| Coriell NA12519 (f) | Homozygous duplication affecting the EZH2 probes. | ||
| 9p21.3 region | Coriell NA02819 (f) | Heterozygous duplication affecting the probes for MLLT3, MTAP, CDKN2A and CDKN2B. | |
| Coriell NA03226 (m) | Heterozygous duplication affecting the probes for MLLT3, MTAP, CDKN2A and CDKN2B. | ||
| Coriell NA05067 (m) | Heterozygous duplication affecting the probes for MLLT3, MTAP, CDKN2A and CDKN2B. | ||
| 9q34.12-q34.13 region | Coriell NA13685 (f) | Heterozygous duplication affecting the probes for ABL1 and NUP214. | |
| 10q23.31 region | Coriell NA20125 (m) | Heterozygous duplication affecting the probes for PTEN. | |
| 11p13-p12 region | Coriell NA09709 (m) | Heterozygous deletion affecting the probes for LMO2, CD44, SLC1A2 and RAG2. | |
| 18p11.21 region | Coriell NA01359 (m) | Heterozygous duplication affecting the PTPN2 probes. | |
| Coriell NA06870 (f) | Homozygous duplication affecting the PTPN2 probes. | ||
| Coriell NA50136 (f) | Heterozygous deletion affecting the PTPN2 probes. | ||
| 18p11.21 &
Xq25-q26.3 region |
Coriell NA03623 (f) | Heterozygous duplication affecting the PTPN2, SH2D1A, PHF6 and ARHGEF6 probes. | |
| Xq25-q26.3 region | Coriell NA01416 (f) | Homozygous duplication affecting the SH2D1A, PHF6 and ARHGEF6 probes. | |
| Coriell NA20027 (f) | Heterozygous deletion affecting the PTPN2, SH2D1A, PHF6 and ARHGEF6 probes. | ||
|
P385-A &
|
9p24.3 region | Coriell NA02819 (f) | Heterozygous duplication affecting the probes for DOCK8 and DMRT1. |
| Coriell NA03226 (m) | Heterozygous duplication affecting the probes for DOCK8 and DMRT1. | ||
| Coriell NA05347 (m) | Heterozygous deletion affecting the probes for DOCK8 and DMRT1. | ||
| Coriell NA10989 (m) | Heterozygous deletion affecting the probes for DOCK8 and DMRT1. | ||
| P405 | See the product page for positive samples. | ||
| P411-B | PPOX | Coriell NA00803 (m) | Heterozygous deletion affecting all PPOX probes. |
| HMBS | Coriell NA15099 (m) | Heterozygous duplication affecting all HMBS probes. | |
| P414-C | 3q21.3-q26.2 region | Coriell NA03563 (m) | Heterozygous duplication affecting the GATA2 and MECOM probes. |
| 5q22.2 region | Coriell NA14234 (m) | Heterozygous deletion affecting the APC probe. | |
| 5q33.3 region | Coriell NA04371 (m) | Heterozygous duplication affecting the MIR146A probe. | |
| 7q21.2-q21.2 region | Coriell NA10160 (m) | Heterozygous deletion affecting the CDK6 and SAMD9L probes. | |
| 7q22.2-q31.2 region | Coriell NA01059 (f) | Heterozygous deletion affecting the KMT2E and MET probes. | |
| 7q36.1 region | Coriell NA01220 (f) | Heterozygous duplication affecting the EZH2 probes. | |
| Coriell NA07412 (m) | Heterozygous deletion affecting the EZH2 probes. | ||
| 8p12-q24.3 region | Coriell NA02030 (m) | Heterozygous duplication affecting the FGFR1, NCOA2, RUNX1T1, MYC and PTK2 probes. | |
| 8p12 region | Coriell NA14485 (m) | Heterozygous duplication affecting the FGFR1 probe. | |
| 8q24.21 region | Coriell NA03999 (f) | Heterozygous deletion affecting the MYC probe. | |
| 8q24.3 region | Coriell NA20263 (m) | Heterozygous deletion affecting the PTK2 probe. | |
| 11q23.3-q24.3 | Coriell NA15099 (m) | Heterozygous duplication affecting the KMT2A, TIRAP and ETS1 probes. | |
| 11q24.2-q24.3 region | Coriell NA09102 (m) | Heterozygous deletion affecting the TIRAP and ETS1 probes. | |
| 12p13.1-p13.2 region | Coriell NA07981 (m) | Triplication affecting the ETV6 and CDKN1B probes. | |
| 17q11.2-q12 region | Coriell NA02587 (m) | Heterozygous mosaic deletion affecting the NF1, SUZ12 and AATF probes. | |
| 20q11.21-q13.12 region | Coriell NA07945 (m) | Heterozygous deletion affecting the SRC and HNF4A probes. | |
| Various | ACC-203 (SK-N-MC) (m) | Heterozygous deletion affecting the probes for MLH1 and TP53. Gain affecting the probes for GATA2, MECOM,FGFR1, NCOA2, RUNX1T1, MYC and PTK2. Some of the reference probes are affected by CNAs. | |
| ACC-554 (MOLM-13) (m) | Gain affecting the probes for FGFR1, NCOA2, RUNX1T1, MYC, PTK2, SMARCA4 and PRPF31. | ||
| ACC-686 (KASUMI-6) (m) | Gain affecting the probes for MECOM and KMT2A exon 4. Heterozygous deletion affecting the probves for ETV6, CDKN1B and TP53. Some of the reference probes are affected by CNAs. | ||
| IKZF1 | ACC-546 (SEM) (f) | Heterozygous deletion affecting the IKZF1 probe. | |
| P417-B | 3p region | Coriell NA04127 (f) | Heterozygous duplication affecting the probes for MLH1, RMB5, RASSF1 and ZMYND10. |
| DSMZ ACC-203 (SK-N-MC) (f) | Heterozygous deletion affecting all probes for BAP1. The flanking probes are also affected. | ||
| DSMZ ACC-512 (ARH-77) (f) | Heterozygous deletion affecting all probes for BAP1. The flanking probes are also affected. | ||
| P419-B | 9p21.3 region | DSMZ ACC-47 (DOHH-2) (m) | Homozygous deletion of MTAP, CDKN2A, CDKN2B and DMRTA1. |
| DSMZ ACC-264 (COLO-679) (f) | Heterozygous deletion of MLLT3, MIR31, MTAP and CDKN2B and homozygous deletion of CDKN2A, as well as several other aberrations. | ||
| Coriell NA03226 (m) | Heterozygous duplication of the 9p21.3 region and of PTENP1. | ||
| Coriell NA05067 (m) | Heterozygous duplication of the 9p21.3 region and of PTENP1. | ||
| CDK4 | DSMZ ACC-573 (SU-DHL-8) (f) | Heterozygous duplication of CDK4. | |
| MITF | Coriell HG00259 (f) and HG01498 (f) are positive for the MITF c.952G>A (p.E318K) mutation. | ||
| P425-B | 1q23.3 region | Coriell NA00803 (m) | Heterozygous deletion affecting the probes for NUF2, RP11s and PBX1. |
| Coriell NA06038 (m) | Heterozygous deletion affecting the PBX1 probe. | ||
| 9p24.1 region | Coriell NA10989 (m) | Heterozygous deletion affecting the JAK2 probe. | |
| 12p13.31 region | Coriell NA07981 (m) | Heterozygous triplication / Homozygous duplication affecting the probes for CD27, VAMP1, NCAPD2 and CHD4. | |
| 13q14.2-q22.1 region | Coriell NA05832 (m) | Heterozygous duplication affecting the probes for RB1, DLEU2 and DIS3. | |
| Coriell NA14164 (f) | Heterozygous deletion affecting the probes for RB1, DLEU2 and DIS3. | ||
| 15q12-q26.3 region | Coriell NA03184 (m) | Heterozygous duplication affecting the probes for GABRB3 and IGF1R. | |
| 15q12 region | Coriell NA20375 (m) | Heterozygous deletion affecting the GABRB3 probe. | |
| 15q26.3 region | Coriell NA03255 (m) | Heterozygous deletion affecting the IGF1R probe. | |
| 16q23.1 region | Coriell NA09687 (m) | Heterozygous duplication affecting the WWOX probe. | |
| P426-A | 2p21 region | Coriell NA10401 (f) | Heterozygous duplication affecting the probes for PPM1B, SLC3A1, PREPL and CAMKMT. |
| Coriell NA13451 (m)) | Heterozygous deletion affecting the probes for PPM1B, SLC3A1, PREPL and CAMKMT. | ||
| P429-C | 2q11.2 region | Coriell NA10401 (f) | Heterozygous duplication affecting the probes for STARD7, TMEM127 and ITPRIPL1. |
| 5p15.33 region | Coriell NA14131 (f) | Heterozygous deletion affecting the probes for CCDC127, SDHA, PDCD6 and TERT. | |
| Coriell NA14523 (f) | Heterozygous duplication affecting the probes for CCDC127, SDHA, PDCD6 and TERT. | ||
| 14q23.1-q24.3 region | Coriell NA05966 (m) | Heterozygous duplication affecting the probes for COTX2, MAX, RDH12 and NPC2. | |
| P433-A | ARID1B | Coriell NA06802 (m) | Heterozygous deletion affecting the probes for ARID1B. |
| Coriell NA07994 (m) | Heterozygous duplication affecting the probes for ARID1B. | ||
| P437-B | 3q26.2 | Coriell NA10175 (m) | Heterozygous duplication affecting the probes for TERC. |
| Coriell NA11428 (f) | Heterozygous duplication affecting the probes for TERC. | ||
| Coriell NA20022 (m) | Heterozygous duplication affecting the probes for TERC. | ||
| 5p15.33 | Coriell NA14523 (f) | Heterozygous duplication affecting the probes for TERT. | |
| Coriell NA14131 (f) | Heterozygous deletion affecting the probes for TERT. | ||
| 21q22.12 | Coriell NA01201 (f) | Heterozygous deletion affecting the probes for RUNX1. | |
| 3q21.3 region
3q26.2 region 5p15.33 region 19q13.1 region |
DSMZ MFE-280 (f) | Gain affecting the probes for GATA2, TERC, TERT, TERC and CEBPA. Some of the reference probes are affected by CNAs. | |
| 3q21.3-3q26.2 region | DSMZ SK-N-MC (f) | Gain affecting the probes for GATA2 and TERC. | |
| P440-A | 4q35.2 region | Coriell NA00501 (m) | Heterozygous duplication affecting the probes for F11. |
| Coriell NA03013 (f) | Heterozygous deletion affecting the probes for F11. | ||
| Coriell NA10313 (m) | Heterozygous deletion affecting the probes for F11. | ||
| 13q34 region | Coriell NA03089 (f) | Heterozygous duplication affecting the probes for F10. | |
| Coriell NA03330 (f) | Heterozygous duplication affecting the probes for F10. | ||
| Coriell NA03887 (f) | Heterozygous deletion affecting the probes for F10. | ||
| Coriell NA05832 (f) | Heterozygous duplication affecting the probes for F10. | ||
| Coriell NA06312 (m) | Heterozygous deletion affecting the probes for F10. | ||
| Coriell NA08254 (m) | Heterozygous deletion affecting the probes for F10. | ||
| P445-A | Xp11.3 region | Coriell NA10636 (f) | Heterozygous duplication affecting the probes for KDM6A. |
| P446-A | GALC | Coriell NA04372 (m) | Heterozygous GALC exon 11-17 deletion (30 kb). |
| Coriell NA04517 (m) | Homozygous GALC exon 11-17 deletion (30 kb). | ||
| P451-B | 16p13.3-p12.1 | Coriell NA06226 (m) | Gain of 16p13.3-p12.1, affecting probes for TSC2, CREBBP, ABAT, ABCC1 and UQCRC2. |
| Coriell NA08039 (m) | Gain of 16p13.3-p12.1, affecting probes for CREBBP, ABAT, ABCC1, UQCRC2 and PALB2. | ||
| 16p11.2 | Coriell NA05875 (f) | Deletion of 16p11.2, affecting the probe for VKORC1. | |
| 16q22.1-q23.1 | Coriell NA12074 (m) | Deletion of 16q22.1-q23.1, affecting probes for CDH1, TXNL4B, DHX38, ZFHX3 and BCAR1. | |
| P453-A | GAA | Coriell NA11661 (m) | Heterozygous GAA exon 18 deletion. |
| Coriell NA16445 (m) | Large heterozygous duplication (6.5 Mb) that includes the complete GAA gene. | ||
| P456-A | EVC/EVC2 | Coriell NA22601 (m) | Heterozygous deletion of the complete EVC and EVC2 genes. |
| P460 | See the product page for positive samples. | ||
| P461 | See the product page for positive samples. | ||
| P466-A | 1p22.1-q31.3 | Coriell NA00214 (m) | Heterozygous deletion affecting the probes for TROVE2, GLRX2, CDC73, B3GALT2, LINC01031 and KCNT2. |
| 1q31.2 | DSMZ ACC-9 (U-266) (m) | Heterozygous deletion affecting the probes for TROVE2, GLRX2 and CDC73 exon 1-2. | |
| P470-A | CLN3 | Coriell NA05875 (f) | Large heterozygous deletion (4.8 Mb) that includes the complete CLN3 gene. |
| Coriell NA20381 (f) | Heterozygous CLN3 exon 7-8 deletion. | ||
| CLN6 | Coriell NA03184 (m) | Large heterozygous duplication (82 Mb) that includes the complete CLN6 gene. | |
| P472-A | 10q24.32 region | Coriell NA00959 (m) | Heterozygous duplication affecting the probes for ACTR1A, SUFU and TRIM8. |
| Coriell NA08386 (f) | Heterozygous duplication affecting the probes for ACTR1A, SUFU and TRIM8. | ||
| Coriell NA20125 (m) | Heterozygous duplication affecting the probes for ACTR1A, SUFU and TRIM8. | ||
| DSMZ ACC-203 (f) | Heterozygous deletion affecting the probes for ACTR1A, SUFU and TRIM8. | ||
| DSMZ ACC-259 (m) | Heterozygous deletion affecting the probes for ACTR1A, SUFU and TRIM8. | ||
| DSMZ ACC-569 (m) | Heterozygous deletion affecting the probes for ACTR1A, SUFU and TRIM8. | ||
| P473-A | 17p/CTNS/ASPA | Coriell NA06047 (m) | Large heterozygous deletion (5.6 Mb) that includes the complete CTNS and SHPK genes. |
| P474-A | 9p24 region | Coriell NA02819 (f) | Heterozygous duplication affecting the CD274, PDCD1LG2 and JAK2 genes and all flanking probes. |
| Coriell NA03226 (m) | Heterozygous duplication affecting the CD274, PDCD1LG2 and JAK2 genes and all flanking probes. | ||
| Coriell NA05067 (m) | Heterozygous duplication affecting the CD274, PDCD1LG2 and JAK2 genes and all flanking probes. | ||
| Coriell NA10989 (m) | Heterozygous deletion affecting the CD274, PDCD1LG2 and JAK2 genes and the VLDLR and SMARCA2 flanking probes. | ||
| Coriell NA14946 (m) | Heterozygous deletion affecting the CD274, PDCD1LG2 and JAK2 genes and the VLDLR and SMARCA2 flanking probes. | ||
| JAK2 | Coriell NA13480 (f) | Heterozygous JAK2 exon 23-24 duplication. | |
| P475-A | 7q31.1 region | Coriell NA01059 (f) | Heterozygous deletion affecting the probes for FOXP2. |
| Coriell NA12519 (f) | Homozygous duplication affecting the probes for FOXP2. | ||
| P476-A | ZNRF3 | Coriell NA02325 (f) | Heterozygous duplication of the ZNRF3 gene. The flanking probes are also affected. |
| Coriell NA07106 (m) | Heterozygous duplication of the ZNRF3 gene. The flanking probes are also affected. This cell line has a partial trisomy of chromosome 22. | ||
| P478-A | SMARCE1 | DSMZ ACC-410 (MFE-280) | Gain of SMARCE1 and all flanking probes. |
| P479-A | TCF12 | Coriell NA03184 (m) | Heterozygous duplication affecting all TCF12 probes. |
| P480-A | 4p16.3 region | Coriell NA00343 (m) | Heterozygous deletion of the 4p16.3 region, affecting all target probes. |
| Coriell NA04126 (m) | Heterozygous deletion of the 4p16.3 region, affecting all target probes. | ||
| Coriell NA22601 (m) | Heterozygous deletion of the 4p16.3 region, affecting all target probes. | ||
| P481-A | 16p11.2 region | Coriell NA05875 (f) | Heterozygous deletion affecting the probes for ZNF843, ARMC5 and TGFB1I1. |
| 17p11.2,
17q23.2-q24.2 region |
DSMZ ACC-49 (L-363) (f) | Heterozygous duplication affecting the probes for FLCN (17p arm), BRIP1, AXIN2, SLC16A6, ARSG, WIPI1, PRKAR1A and FAM20A, and one reference probe at 250 nt. | |
| P482-A | DICER1 | Coriell NA10074 (m) | Heterozygous duplication affecting all DICER1 probes. Flanking probes are also affected. |
| Coriell NA13410 (m) | Heterozygous duplication affecting all DICER1 probes. Flanking probes are also affected, except the RPGRIP1 probe. | ||
| DSMZ ACC-49 (L-363) (f) | Deletion affecting all DICER1 probes. Flanking probes are also affected, except the RPGRIP1 probe. Some of the reference probes are affected by CNAs. | ||
| P483-A | 2p22.3-q34 region | Coriell NA10401 (f) | Heterozygous duplication affecting the probes for SPAST, CPS1, ERBB4 and IKZF2. |
| 2q34 region | Coriell NA01229 (f) | Heterozygous duplication affecting the probes for CPS1, ERBB4 and IKZF2. | |
| Coriell NA10918 (f) | Heterozygous deletion affecting the probes for ERBB4 and IKZF2. | ||
| 7p11.2 region | Coriell NA07081 (m) | Heterozygous duplication affecting the probes for VSTM2A, EGFR and LANCL2. | |
| 2p22.3 region
7p11.2 region 7q22.3 region 12q13.2 region 17p11.2-q12 region 17q12 region |
DSMZ ACC-410 (MFE-280) (f) | Heterozygous duplication affecting the probes for SPAST (2p22.3), VSTM2A, EGFR and LANCL2 (7p11.2), and PGAP3, ERBB2 and MIEN1 (17q12). Heterozygous deletion affecting the SLC26A4 probe (7q22.3). Amplification affecting the probes for RPS26, ERBB3 and PA2G4 (12q13.2), and FLCN and WSB1 (17p11.2-q12). Some of the reference probes are affected by CNAs. | |
| 17q11.1-12 region | DSMZ ACC-589 (JIMT-1) (f) | Homozygous duplication affecting the probes for WSB1. Amplification affecting the probes for PGAP3, ERBB2 and MIEN1. Some of the reference probes are affected by CNAs. | |
| P490-B | ADA2 | Coriell NA02944 (m) | Heterozygous deletion affecting all ADA2 probes. |
| Coriell NA16362 (m) | Heterozygous duplication affecting all ADA2 probes. | ||
| P492-A | 12q24.33 region | Coriell NA01535 (f) | Heterozygous deletion affecting all POLE probes. |
| Coriell NA02819 (f) | Heterozygous deletion affecting all POLE probes. | ||
| Coriell NA07891 (m) | Heterozygous deletion affecting all POLE probes. | ||
| P494-A | 8q21.3 region | Coriell NA02030 (m) | Heterozygous duplication affecting all NBN probes. |
| Coriell NA03134 (m) | Heterozygous deletion affecting all NBN probes. | ||
| P496-A | NIPBL | Coriell NA14523 (f) | Heterozygous duplication affecting the NIPBL probe. |
| NPM1 | Coriell NA04371 (m) | Heterozygous duplication affecting the probes for NPM1. | |
| IKZF1 | Coriell NA07081 (m) | Heterozygous duplication affecting the probes for IKZF1. | |
| 7q22 region | Coriell NA01059 (f) | Heterozygous deletion affecting the probes for CUX1 and KMT2E. | |
| EZH2 | Coriell NA07412 (m) | Heterozygous deletion affecting the probes for EZH2. | |
| Coriell NA12519 (f) | Homozygous duplication affecting the probes for EZH2. | ||
| NUP98 | Coriell NA03435 (m) | Heterozygous duplication affecting the NUP98 probe. | |
| SLC6A5 | Coriell NA05518 (f) | Heterozygous deletion affecting the SLC6A5 probe. | |
| ATM | Coriell NA09596 (m) | Heterozygous deletion affecting the probes for ATM. | |
| Various | DSMZ ACC-220 (KASUMI-1) (m) | Heterozygous deletion affecting the probes for TP53. Positive for the ASXL1 c.1934dupG mutation. Some of the reference probes are affected by CNAs. | |
| DSMZ ACC-686 (KASUMI-6) (m) | Gain affecting the probes for KMT2A exon 2-7. Heterozygous deletion affecting the probes for TP53. Some of the reference probes are affected by CNAs. | ||
| DSMZ ACC-386 (EOL-1) (m) | Gain affecting the probes for KMT2A exon 2-7. Some of the reference probes are affected by CNAs. | ||
| DSMZ ACC-775 (UOC-M1) (m) | Heterozygous deletion affecting the probes for CTNNA1, IKZF1, CUX1, KMT2E, EZH2, NUP98, SLC6A5 and TP53. Gain affecting the probes for ATM, UBE4A, KMT2A, TMEM25 and ETS1. Some of the reference probes are affected by CNAs. | ||
| DSMZ ACC-15 (ML-2) (m) | Heterozygous deletion affecting the probes for SLC6A5, KMT2A exon 9-36, TMEM25 and ETS1. Some of the reference probes are affected by CNAs. | ||
| DSMZ ACC-542 (NOMO-1) (f) | Gain affecting the probes for NIPBL and CUX1. Heterozygous deletion affecting the probes for KMT2E, EZH2 and KMT2A exon 9. Some of the reference probes are affected by CNAs. | ||
| P520-A | JAK2 | Horizon Discovery provides a JAK2 p.V617F reference standard (catalog number HD649; HD652 is a wild type reference standard). | |
| The NIBSC Institute provides a JAK2 p.V617F WHO reference panel (catalog number 16/120). | |||
| KIT | AccuRef Quan-Plex™ NGS Reference Standard Genomic DNA (catalog number ARF-1001G-1) can be used as reference for the KIT p.D816V mutation; Onco-Ref™ Genomic DNA Reference Standard HCT116 WT (catalog number ASO-6052-1) can be used as wild-type control. | ||