A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3239939



Internal ID22374568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:68634507..68642571hg38UCSC Ensembl
Outerchr16:68668410..68676474hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg38670
hg19670
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14259369, nssv14259368, nssv14259370, nssv14259367
SamplesNA19238, NA19239, HG00731, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3239939
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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