A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv908137



Internal ID16202093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:47570056..47570898hg38UCSC Ensembl
Innerchr2:47797195..47798037hg19UCSC Ensembl
Innerchr2:47650699..47651541hg18UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg38843
hg19843
hg18843
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv581765
Supporting Variants
Samples
Known GenesKCNK12
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv908137
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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