A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5522813



Internal ID299071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:54092670..54097695hg38UCSC Ensembl
chr20:52709209..52714234hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg385026
hg195026
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17733098
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5522813
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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