A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14265838



Internal ID22135008
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3230369
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14265838
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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