A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14267909



Internal ID22121686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:17213228..17244023hg38UCSC Ensembl
Outerchr21:18585546..18616341hg19UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg3830796
hg1930796
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3225709
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14267909
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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