A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5533437



Internal ID309327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:22661206..22721206hg38UCSC Ensembl
chr18:20241169..20301169hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg3860001
hg1960001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17716619
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5533437
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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