A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3196921



Internal ID22346857
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7823n152
Supporting Variantsnssv14277113, nssv14277112, nssv14277111, nssv14277110
SamplesHG00512, NA19238, HG00513, HG00514
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)nsv3196921
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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