A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5530054



Internal ID306050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:60559254..60566698hg38UCSC Ensembl
chr20:59134312..59141756hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg387445
hg197445
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17733432
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5530054
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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