A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3223535



Internal ID22367272
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14269367
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)nsv3223535
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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