A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14269366



Internal ID22231674
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3216071
Supporting Variants
SamplesHG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14269366
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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