A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3233978



Internal ID22372894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:38458322..38464657hg38UCSC Ensembl
Outerchr20:37086965..37093300hg19UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg382235
hg192235
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14268028, nssv14268025, nssv14268027, nssv14268023, nssv14268024, nssv14268022, nssv14268020, nssv14268026, nssv14268021
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)nsv3233978
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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