A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14269367



Internal ID22122098
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:38889421..38997338hg38UCSC Ensembl
Outerchr22:39285426..39393343hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg38107918
hg19107918
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3223535
Supporting Variants
SamplesHG00512
Known GenesAPOBEC3A, APOBEC3A_B, APOBEC3B, APOBEC3B-AS1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14269367
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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