A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3221659



Internal ID22365969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:62645327..62653386hg38UCSC Ensembl
Outerchr6:63355232..63363291hg19UCSC Ensembl
Cytoband6q11.2
Allele length
AssemblyAllele length
hg386359
hg196359
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14276582, nssv14276583
SamplesNA19238, HG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3221659
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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