A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3219497



Internal ID22364505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:9187907..9312411hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg38124505
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5428n152
Supporting Variantsnssv14267899, nssv14267900
SamplesNA19240, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3219497
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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