A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv611538



Internal ID16398947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:72773297..72849970hg38UCSC Ensembl
Innerchr8:73685532..73762205hg19UCSC Ensembl
Innerchr8:73848086..73924759hg18UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg3876674
hg1976674
hg1876674
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1156368
SamplesHGDP00782
Known GenesKCNB2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv611538
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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