A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17728164



Internal ID151830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:25502438..25703830hg38UCSC Ensembl
chr22:25898405..26099797hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38201393
hg19201393
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5545124
Supporting Variants
Samples
Known GenesADRBK2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17728164
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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