A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5514493



Internal ID290990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:16576824..16585231hg38UCSC Ensembl
chr20:16557469..16565876hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg388408
hg198408
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17731249
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5514493
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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