A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv611536



Internal ID16398945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:72705365..72730546hg38UCSC Ensembl
Innerchr8:73617600..73642781hg19UCSC Ensembl
Innerchr8:73780154..73805335hg18UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg3825182
hg1925182
hg1825182
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12200n54
Supporting Variantsnssv1116166, nssv1156367
SamplesHGDP00886
Known GenesKCNB2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv611536
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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