A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv700101



Internal ID15090067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:80144156..80182710hg38UCSC Ensembl
Innerchr6:80853873..80892427hg19UCSC Ensembl
Innerchr6:80910592..80949146hg18UCSC Ensembl
Innerchr6:80910592..80949146hg17UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg3838555
hg1938555
hg1838555
hg1738555
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv524214
Supporting Variants
Samples
Known GenesBCKDHB
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv700101
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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