A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3220078



Internal ID22364891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:137637342..137733308hg38UCSC Ensembl
Outerchr8:138649585..138745551hg19UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg3895967
hg1995967
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14278883, nssv14278882
SamplesHG00732, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3220078
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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