A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv596931



Internal ID16384340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:4647914..4661399hg38UCSC Ensembl
Innerchr5:4648027..4661512hg19UCSC Ensembl
Innerchr5:4701027..4714512hg18UCSC Ensembl
Cytoband5p15.32
Allele length
AssemblyAllele length
hg3813486
hg1913486
hg1813486
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1152992
SamplesHGDP00721
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv596931
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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