A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3232137



Internal ID22372432
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:85659403..85782905hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg38733
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9236n152
Supporting Variantsnssv14281046, nssv14281047
SamplesHG00731, HG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3232137
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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