A curated catalogue of human genomic structural variation

Variant Details

Variant: nsv471700

Internal ID15214519
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46508999..46678229hg38UCSC Ensembl
Innerchr17:44586365..44755595hg19UCSC Ensembl
Innerchr17:41941681..42110774hg18UCSC Ensembl
Innerchr17:45061320..45230413hg16UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv549829, nssv549826, nssv549830, nssv549818, nssv549820, nssv549822, nssv549833, nssv549828, nssv549823, nssv549825, nssv549824, nssv549819, nssv549831, nssv549827, nssv549832, nssv549821, nssv549834, nssv549835
SamplesNA17016, NA11776, NA11323, NA17020, NA15728, P86GA, NA10970, NA10967, NA16688, JK1688B, JK1051A, NA17015, NA17058, NA17014, NA15729, NA10492, NA17017, NA10971
Known GenesARL17A, ARL17B, LRRC37A2, NSF, NSFP1
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)nsv471700
Sample Size48
Observed Gain12
Observed Loss6
Observed Complex0

Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer