A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14267196



Internal ID22135418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:60529526..60563244hg38UCSC Ensembl
Outerchr20:59104584..59138302hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg3833719
hg1933719
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3229295
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14267196
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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