A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5522313



Internal ID298583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:2224825..2385108hg38UCSC Ensembl
chr20:2205471..2365754hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg38160284
hg19160284
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17730306
Samples
Known GenesTGM3, TGM6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5522313
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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