A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3220421



Internal ID22365119
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14268639, nssv14268149, nssv14268640, nssv14268147, nssv14268148
SamplesHG00512, NA19238, HG00732, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3220421
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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