A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3230369



Internal ID22371913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:9482615..9500289hg38UCSC Ensembl
Outerchr20:9463262..9480936hg19UCSC Ensembl
Cytoband20p12.2
Allele length
AssemblyAllele length
hg386016
hg196016
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14265838, nssv14265841, nssv14265839, nssv14265840
SamplesNA19238, NA19239, NA19240, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3230369
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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