A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3232859



Internal ID22372610
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:86460883..86466552hg38UCSC Ensembl
Outerchr16:86494489..86500158hg19UCSC Ensembl
Cytoband16q24.1
Allele length
AssemblyAllele length
hg38880
hg19880
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14260322, nssv14260321, nssv14260324, nssv14260325, nssv14260323, nssv14260327, nssv14260320, nssv14260326, nssv14260328
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3232859
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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