A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3239739



Internal ID22374507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:801390..853079hg38UCSC Ensembl
Outerchr20:782033..833722hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg381705
hg191705
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14266893, nssv14266889, nssv14266894, nssv14266892, nssv14266890, nssv14266891
SamplesNA19238, NA19239, HG00731, NA19240, HG00733, HG00513
Known GenesFAM110A
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3239739
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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