A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17729462



Internal ID153128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:45166718..45166718hg38UCSC Ensembl
chr22:45562599..45562599hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38125
hg19125
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5422763
Supporting Variants
Samples
Known GenesNUP50
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17729462
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.263201


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