A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv702653



Internal ID15092619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:97787220..98197591hg38UCSC Ensembl
Innerchr2:98403683..98814054hg19UCSC Ensembl
Innerchr2:97770115..98180486hg18UCSC Ensembl
Innerchr2:97862201..98272572hg17UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg38410372
hg19410372
hg18410372
hg17410372
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv526360
Supporting Variants
Samples
Known GenesTMEM131, VWA3B
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv702653
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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