A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14268149



Internal ID22146508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:15193008..15267156hg38UCSC Ensembl
Outerchr21:16565328..16639475hg19UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg3874149
hg1974148
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3220421
Supporting Variants
SamplesHG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14268149
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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