A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv611534



Internal ID16398943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:72676239..72730546hg38UCSC Ensembl
Innerchr8:73588474..73642781hg19UCSC Ensembl
Innerchr8:73751028..73805335hg18UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg3854308
hg1954308
hg1854308
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12199n54
Supporting Variantsnssv1116162
Samples
Known GenesKCNB2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv611534
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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