A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002661



Internal ID19091878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:240686640..240802560hg38UCSC Ensembl
Innerchr2:241626057..241741977hg19UCSC Ensembl
Innerchr2:241274730..241390650hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38115921
hg19115921
hg18115921
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3730128
Samples
Known GenesAQP12A, KIF1A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1002661
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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