A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17728739



Internal ID152405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:36044144..36084545hg38UCSC Ensembl
chr22:36440192..36480593hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3840402
hg1940402
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5539711
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17728739
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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