A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14276717



Internal ID22127755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:80121922..80207969hg38UCSC Ensembl
Outerchr6:80831639..80917686hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg3886048
hg1986048
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3206512
Supporting Variants
SamplesHG00512
Known GenesBCKDHB
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14276717
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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