A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14266876



Internal ID22135322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:263528..279751hg38UCSC Ensembl
Outerchr20:244169..260392hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg381733
hg191733
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3245863
Supporting Variants
SamplesHG00513
Known GenesC20orf96
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14266876
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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