A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520361



Internal ID15100968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:233061491..233064835hg38UCSC Ensembl
Innerchr2:233926201..233929545hg19UCSC Ensembl
Innerchr2:233634445..233637789hg18UCSC Ensembl
Innerchr2:233751706..233755050hg17UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg383345
hg193345
hg183345
hg173345
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv697372
Samples
Known GenesINPP5D
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520361
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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