A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3248797



Internal ID22377089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:39059184..39108710hg38UCSC Ensembl
Outerchr20:37687827..37737353hg19UCSC Ensembl
Cytoband20q12
Allele length
AssemblyAllele length
hg381342
hg191342
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14268042, nssv14268039, nssv14268036, nssv14268040, nssv14268043, nssv14268037, nssv14268041, nssv14268038, nssv14268035
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)nsv3248797
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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