A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14267928



Internal ID22135652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:18216831..18243536hg38UCSC Ensembl
Outerchr21:19589148..19615853hg19UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg3826706
hg1926706
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3216129
Supporting Variants
SamplesHG00513
Known GenesCHODL
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14267928
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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