A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216071



Internal ID22362189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:36743886..36752828hg38UCSC Ensembl
Outerchr22:37139931..37148872hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg388943
hg198942
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14269361, nssv14269366, nssv14269364, nssv14269363, nssv14269362, nssv14269365
SamplesHG00512, HG00731, HG00732, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3216071
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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