A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3223926



Internal ID22367538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:42582649..42592213hg38UCSC Ensembl
Outerchr21:44002759..44012323hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg389565
hg199565
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14268652, nssv14268654, nssv14267885, nssv14268651, nssv14267886, nssv14268653
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3223926
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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