A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv471680



Internal ID15561194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:31922244..32111643hg38UCSC Ensembl
Innerchr15:32214447..32403844hg19UCSC Ensembl
Innerchr15:30001739..30191136hg18UCSC Ensembl
Innerchr15:29930503..30119900hg16UCSC Ensembl
Cytoband15q13.3
Allele length
AssemblyAllele length
hg38189400
hg19189398
hg18189398
hg16189398
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv551111, nssv551114, nssv551113, nssv551112
SamplesJK1688B, NA10495, NA10494, NA15729
Known GenesCHRNA7
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.
PlatformGPL4010
Comments
ReferenceSharp_et_al_2005
Pubmed ID15918152
Accession Number(s)nsv471680
Frequency
Sample Size48
Observed Gain3
Observed Loss1
Observed Complex0
Frequencyn/a


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