A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14268123



Internal ID22199966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:32615085..32632946hg38UCSC Ensembl
Outerchr20:31202887..31220748hg19UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg381402
hg191402
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3249402
Supporting Variants
SamplesHG00732
Known GenesC20orf203
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14268123
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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