A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv694395



Internal ID15431047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:4246799..4253667hg38UCSC Ensembl
Innerchr2:4294389..4301257hg19UCSC Ensembl
Innerchr2:4272264..4279132hg18UCSC Ensembl
Innerchr2:3787758..3794626hg17UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg386869
hg196869
hg186869
hg176869
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv520707
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv694395
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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