A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv697226



Internal ID15433878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:81008253..81032925hg38UCSC Ensembl
Innerchr2:81235377..81260049hg19UCSC Ensembl
Innerchr2:81088888..81113560hg18UCSC Ensembl
Innerchr2:81147035..81171707hg17UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3824673
hg1924673
hg1824673
hg1724673
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv520106
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv697226
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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