A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14269394



Internal ID22222075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:17286777..17313266hg38UCSC Ensembl
Outerchr22:17767667..17794156hg19UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg3826490
hg1926490
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3210871
Supporting Variants
SamplesHG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14269394
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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