A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv697082



Internal ID15433734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:206383670..206388916hg38UCSC Ensembl
Innerchr2:207248394..207253640hg19UCSC Ensembl
Innerchr2:206956639..206961885hg18UCSC Ensembl
Innerchr2:207073900..207079146hg17UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg385247
hg195247
hg185247
hg175247
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv519846
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv697082
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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