A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv701693



Internal ID15438345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:83108691..83316874hg38UCSC Ensembl
Innerchr2:83335815..83543998hg19UCSC Ensembl
Innerchr2:83189326..83397509hg18UCSC Ensembl
Innerchr2:83247473..83455656hg17UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38208184
hg19208184
hg18208184
hg17208184
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv525554
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv701693
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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