A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3242207



Internal ID22375200
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:65127339..65138031hg38UCSC Ensembl
Outerchr16:65161242..65171934hg19UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg383836
hg193836
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14259334, nssv14259331, nssv14259338, nssv14259337, nssv14259333, nssv14259339, nssv14259332, nssv14259335, nssv14259336
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)nsv3242207
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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