A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3191342



Internal ID22342061
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:62881628..62914034hg38UCSC Ensembl
Outerchr6:63591533..63623939hg19UCSC Ensembl
Cytoband6q12
Allele length
AssemblyAllele length
hg3832407
hg1932407
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14277289, nssv14277290, nssv14277288
SamplesHG00732, HG00733, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3191342
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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