A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14277111



Internal ID22138223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:32455899..32819812hg38UCSC Ensembl
Outerchr6:32423676..32787589hg19UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg38363914
hg19363914
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3196921
Supporting Variants
SamplesHG00513
Known GenesHLA-DOB, HLA-DQA1, HLA-DQA2, HLA-DQB1, HLA-DQB2, HLA-DRB1, HLA-DRB5, HLA-DRB6
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14277111
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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