A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17728933



Internal ID152599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:38476852..38476984hg38UCSC Ensembl
chr22:38872857..38872989hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg38133
hg19133
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5534947
Supporting Variants
Samples
Known GenesKDELR3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17728933
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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