A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17732983



Internal ID156649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:52053001..52059647hg38UCSC Ensembl
chr20:50669540..50676186hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg386647
hg196647
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5527680
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17732983
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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