A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3246560



Internal ID22376452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:85647213..85755432hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg38396655
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9236n152
Supporting Variantsnssv14281036, nssv14281037, nssv14281038
SamplesHG00732, HG00733, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3246560
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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