A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5520593



Internal ID296918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:62319356..62321390hg38UCSC Ensembl
chr18:59986589..59988623hg19UCSC Ensembl
Cytoband18q21.33
Allele length
AssemblyAllele length
hg382035
hg192035
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17718746
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5520593
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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