A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3210900



Internal ID22358640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:40740086..40760282hg38UCSC Ensembl
Outerchr22:41136090..41156286hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg3820197
hg1920197
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14269299, nssv14269297, nssv14269301, nssv14269300, nssv14269298
SamplesNA19238, HG00731, HG00732, HG00733, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3210900
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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