A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv962610



Internal ID16256566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:47147995..47214567hg38UCSC Ensembl
Innerchr3:47189485..47256057hg19UCSC Ensembl
Innerchr3:47164489..47231061hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3866573
hg1966573
hg1866573
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv590211
Supporting Variants
Samples
Known GenesKIF9-AS1, SETD2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv962610
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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