A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv582513



Internal ID16369922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:98212774..98253451hg38UCSC Ensembl
Innerchr2:98829237..98869914hg19UCSC Ensembl
Innerchr2:98195669..98236346hg18UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg3840678
hg1940678
hg1840678
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6974n54
Supporting Variantsnssv914143
Samples
Known GenesVWA3B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv582513
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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