A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5531196



Internal ID307159
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:50986041..50990598hg38UCSC Ensembl
chr20:49602578..49607135hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg384558
hg194558
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17732914
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5531196
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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