A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17728428



Internal ID152094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:30478324..30478324hg38UCSC Ensembl
chr22:30874311..30874311hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg381062
hg191062
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5550831
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17728428
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.138989


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