A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17728927



Internal ID152593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:38432117..38438100hg38UCSC Ensembl
chr22:38828122..38834105hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg385984
hg195984
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5536189
Supporting Variants
Samples
Known GenesKCNJ4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17728927
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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