A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv698311



Internal ID15088277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:119230989..119243926hg38UCSC Ensembl
Innerchr2:119988565..120001502hg19UCSC Ensembl
Innerchr2:119705035..119717972hg18UCSC Ensembl
Innerchr2:119704795..119717732hg17UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg3812938
hg1912938
hg1812938
hg1712938
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv519595
Supporting Variants
Samples
Known GenesSTEAP3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv698311
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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