A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3212591



Internal ID22359788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:41616182..41619145hg38UCSC Ensembl
Outerchr21:43036342..43039305hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg382964
hg192964
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14267932
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3212591
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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