A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv688553



Internal ID15078519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:119218787..119240639hg38UCSC Ensembl
Innerchr2:119976363..119998215hg19UCSC Ensembl
Innerchr2:119692833..119714685hg18UCSC Ensembl
Innerchr2:119692593..119714445hg17UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg3821853
hg1921853
hg1821853
hg1721853
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)nssv688553
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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