A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3221204



Internal ID22365668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:8258880..8388720hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg38129841
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14268131, nssv14268132
SamplesNA19238, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3221204
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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