A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17728788



Internal ID152454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:36568371..36578114hg38UCSC Ensembl
chr22:36964418..36974161hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg389744
hg199744
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5540029
Supporting Variants
Samples
Known GenesCACNG2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17728788
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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