A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5534606



Internal ID310382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:30974704..30974766hg38UCSC Ensembl
chr22:31370690..31370752hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17728456
Samples
Known GenesTUG1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5534606
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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