A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17728738



Internal ID152404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:36024517..36026109hg38UCSC Ensembl
chr22:36420565..36422157hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg381593
hg191593
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5540587
Supporting Variants
Samples
Known GenesRBFOX2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17728738
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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