A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv671492



Internal ID15061458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:212988531..212990766hg38UCSC Ensembl
Innerchr2:213853255..213855490hg19UCSC Ensembl
Innerchr2:213561500..213563735hg18UCSC Ensembl
Innerchr2:213678761..213680996hg17UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg382236
hg192236
hg182236
hg172236
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517070
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv671492
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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