A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv659989



Internal ID15396641
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:240896015..240899087hg38UCSC Ensembl
Innerchr2:241835432..241838504hg19UCSC Ensembl
Innerchr2:241484105..241487177hg18UCSC Ensembl
Innerchr2:241555422..241558494hg17UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg383073
hg193073
hg183073
hg173073
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv519993
Supporting Variants
Samples
Known GenesC2orf54
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv659989
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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