A curated catalogue of human genomic structural variation

Variant Details

Variant: nsv471682

Internal ID15214501
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:34268250..34590429hg38UCSC Ensembl
Innerchr15:34560451..34882630hg19UCSC Ensembl
Innerchr15:32347743..32669922hg18UCSC Ensembl
Innerchr15:32276507..32598686hg16UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv550057, nssv550021, nssv550039, nssv550024, nssv550026, nssv550053, nssv550040, nssv550075, nssv550045, nssv550062, nssv550027, nssv550058, nssv550054, nssv550052, nssv550032, nssv550035, nssv550067, nssv550043, nssv550042, nssv550056, nssv550065, nssv550037, nssv550028, nssv550064, nssv550033, nssv550034, nssv550047, nssv550059, nssv550069, nssv550073, nssv550022, nssv550029, nssv550066, nssv550050, nssv550060, nssv550063, nssv550071, nssv550046, nssv550049, nssv550074, nssv550076, nssv550036, nssv550025, nssv550051, nssv550068, nssv550070, nssv550031, nssv550061, nssv550055, nssv550072, nssv550023, nssv550048, nssv550044, nssv550030, nssv550041, nssv550038, nssv550020
SamplesNA15727, NA10470, JK1058B, NA17016, NA11776, NA11323, NA10494, NA16689, NA11521, NA10496, NA17020, NA10976, NA15724, NA15728, NA10473, NA11523, NA15732, NA17052, P86GA, NA10970, NA10471, NA15730, NA10967, NA16688, NA10969, NA15726, NA17059, JK1061, JK1688B, NA17015, NA17058, JK776, NA10493, NA10495, NA17014, NA15729, NA10492, NA10979, NA17017, NA15731, NA10971, NA15733, NA10472
Known GenesGOLGA8A, GOLGA8B, LPCAT4, MIR1233-1, MIR1233-2, NOP10, NUTM1, SLC12A6
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)nsv471682
Sample Size48
Observed Gain42
Observed Loss1
Observed Complex0

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