A curated catalogue of human genomic structural variation

Variant Details

Variant: nsv471650

Internal ID15214469
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7311894..8172828hg38UCSC Ensembl
Innerchr8:7169416..8030350hg19UCSC Ensembl
Innerchr8:7156826..8067760hg18UCSC Ensembl
Innerchr8:7156826..8067760hg16UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv550187, nssv548840, nssv550188, nssv550182, nssv550184, nssv548829, nssv548830, nssv550189, nssv549695, nssv550178, nssv549700, nssv549698, nssv549694, nssv548822, nssv549701, nssv548842, nssv548821, nssv548844, nssv548833, nssv548820, nssv548838, nssv548846, nssv548828, nssv550179, nssv548835, nssv548839, nssv548836, nssv548841, nssv548834, nssv549696, nssv550185, nssv548832, nssv550177, nssv549705, nssv548845, nssv548824, nssv549702, nssv548831, nssv550186, nssv548823, nssv549704, nssv548843, nssv548825, nssv548826, nssv549703, nssv550180, nssv548819, nssv549693, nssv548827, nssv549697, nssv550190, nssv548837, nssv549699, nssv550181, nssv550183
SamplesNA15727, NA10470, JK1058B, NA11776, NA11323, NA16689, NA11521, NA10496, NA10976, NA11523, NA15732, P86GA, NA10471, NA10469, NA10967, NA16688, NA10969, NA15726, NA15725, JK1061, JK1051A, NA10493, NA10495, NA17014, NA15729, NA10492, NA10979, NA17017, NA10971, NA10472
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB109P1B, DEFB4A, DEFB4B, FAM66B, FAM66E, FAM90A10P, FAM90A7P, MIR548I3, PRR23D1, PRR23D2, SPAG11A, SPAG11B, USP17L1P, USP17L3, USP17L4, USP17L8, ZNF705B, ZNF705G
MethodBAC aCGH
AnalysisArray image analysis and normalization were performed using UCSF Spot and Sproc software (Jain et al. 2002). BACs for which only one of the triplicates printed on the array yielded data, or for which the standard deviation of log2 ratio for the triplicates was 10.2, were removed from final analysis. Furthermore, we discarded BACs that failed to yield data in <20% of cases. For each hybridization experiment, we established a threshold log2 ratio of 2 SDs from the mean of all autosomal clones, and BACs that exceeded this threshold in both independent dye-swap experiments were classified as variant.
Pubmed ID15918152
Accession Number(s)nsv471650
Sample Size48
Observed Gain12
Observed Loss18
Observed Complex0

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