A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv908116



Internal ID16202072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:47569996..47570708hg38UCSC Ensembl
Innerchr2:47797135..47797847hg19UCSC Ensembl
Innerchr2:47650639..47651351hg18UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg38713
hg19713
hg18713
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv581760
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)nssv908116
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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