A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14267284



Internal ID22203826
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:53830898..53838262hg38UCSC Ensembl
Outerchr20:52447437..52454801hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg381396
hg191396
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3234884
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14267284
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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