A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv527354



Internal ID15454647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:233185159..233210236hg38UCSC Ensembl
Innerchr2:234093805..234118882hg19UCSC Ensembl
Innerchr2:233758544..233783621hg18UCSC Ensembl
Innerchr2:233875805..233900882hg17UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3825078
hg1925078
hg1825078
hg1725078
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv703783
Samples
Known GenesINPP5D
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv527354
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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