A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17732944



Internal ID156610
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:51586780..51588333hg38UCSC Ensembl
chr20:50203319..50204872hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg381554
hg191554
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5530257
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17732944
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001249


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