A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17728527



Internal ID152193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:31969896..32152513hg38UCSC Ensembl
chr22:32365883..32548500hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg38182618
hg19182618
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5542773
Supporting Variants
Samples
Known GenesAP1B1P1, C22orf42, SLC5A1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17728527
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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