A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3219948



Internal ID22364804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:36700310..36760114hg38UCSC Ensembl
Outerchr22:37096355..37156158hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3859805
hg1959804
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14269296
SamplesNA19238
Known GenesCACNG2, IFT27
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3219948
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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