A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14269332



Internal ID22271193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:36154530..36222797hg38UCSC Ensembl
Outerchr22:36550578..36618843hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3868268
hg1968266
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3221765
Supporting Variants
SamplesNA19239
Known GenesAPOL3, APOL4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14269332
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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