A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv709001



Internal ID16002957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:6005579..6006243hg38UCSC Ensembl
Innerchr1:6065639..6066303hg19UCSC Ensembl
Innerchr1:5988226..5988890hg18UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg38665
hg19665
hg18665
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv545205
Supporting Variants
Samples
Known GenesKCNAB2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv709001
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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