A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519595



Internal ID15446888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:119212255..119243926hg38UCSC Ensembl
Innerchr2:119969831..120001502hg19UCSC Ensembl
Innerchr2:119686301..119717972hg18UCSC Ensembl
Innerchr2:119686061..119717732hg17UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg3831672
hg1931672
hg1831672
hg1731672
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv682881, nssv671397, nssv676863, nssv688553, nssv657719, nssv657003, nssv698311
Samples
Known GenesSTEAP3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519595
Frequency
Sample Size2026
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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