A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14269301



Internal ID22263966
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3210900
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14269301
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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