A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14269296



Internal ID22256548
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3219948
Supporting Variants
SamplesNA19238
Known GenesCACNG2, IFT27
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14269296
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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