A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3232916



Internal ID22372625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:85654843..85790535hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg38723748
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9236n152
Supporting Variantsnssv14280419, nssv14280657, nssv14280421, nssv14280656, nssv14280420, nssv14280655
SamplesHG00512, NA19238, HG00731, HG00732, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3232916
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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