A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17728531



Internal ID152197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:32130274..32170624hg38UCSC Ensembl
chr22:32526261..32566611hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3840351
hg1940351
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5552172
Supporting Variants
Samples
Known GenesAP1B1P1, C22orf42
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17728531
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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