A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv611533



Internal ID16398942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:72676239..72723719hg38UCSC Ensembl
Innerchr8:73588474..73635954hg19UCSC Ensembl
Innerchr8:73751028..73798508hg18UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg3847481
hg1947481
hg1847481
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12199n54
Supporting Variantsnssv1116161, nssv1116160
Samples
Known GenesKCNB2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv611533
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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