A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv471638



Internal ID15214457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:35502542..35687194hg38UCSC Ensembl
Innerchr7:35542152..35726804hg19UCSC Ensembl
Innerchr7:35508677..35693329hg18UCSC Ensembl
Innerchr7:35284334..35468033hg16UCSC Ensembl
Cytoband7p14.2
Allele length
AssemblyAllele length
hg38184653
hg19184653
hg18184653
hg16183700
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv550261, nssv550259, nssv550260, nssv550262
SamplesNA15726, NA15731, NA15724, NA11323
Known GenesHERPUD2
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)nsv471638
Frequency
Sample Size48
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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