A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14269320



Internal ID22273831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:20335627..20364333hg38UCSC Ensembl
Outerchr22:20323150..20718623hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3828707
hg19395474
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3213816
Supporting Variants
SamplesNA19239
Known GenesLOC729444, PI4KAP1, RIMBP3, TMEM191B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14269320
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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