A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3236796



Internal ID22373694
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:20328074..20365346hg38UCSC Ensembl
Outerchr20:20308718..20345990hg19UCSC Ensembl
Cytoband20p11.23
Allele length
AssemblyAllele length
hg382710
hg192710
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14265870, nssv14266360, nssv14266361, nssv14266362, nssv14265871, nssv14266363, nssv14265872
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733
Known GenesC20orf26
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3236796
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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