A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3240408



Internal ID22374695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:9187907..9288394hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg38116494
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5427n152
Supporting Variantsnssv14268788, nssv14268787, nssv14267725
SamplesNA19240, HG00733, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3240408
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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