A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1116167



Internal ID15969353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:72705365..72736992hg38UCSC Ensembl
Innerchr8:73617600..73649227hg19UCSC Ensembl
Innerchr8:73780154..73811781hg18UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg3831628
hg1931628
hg1831628
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv611537
Supporting Variants
Samples
Known GenesKCNB2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1116167
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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