A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17729682



Internal ID153348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:47917542..47918273hg38UCSC Ensembl
chr22:48313291..48314022hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38732
hg19732
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5538496
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17729682
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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