A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3219832



Internal ID22364722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:85659403..85782905hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg38123503
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9237n152
Supporting Variantsnssv14278871, nssv14282228
SamplesHG00512, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3219832
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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