A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv702363



Internal ID15439015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:52824335..52829408hg38UCSC Ensembl
Innerchr2:53051473..53056546hg19UCSC Ensembl
Innerchr2:52904977..52910050hg18UCSC Ensembl
Innerchr2:52963124..52968197hg17UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg385074
hg195074
hg185074
hg175074
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv520722
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv702363
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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