A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5516146



Internal ID292612
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:25252719..25252792hg38UCSC Ensembl
chr18:22832683..22832756hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17716732
Samples
Known GenesZNF521
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5516146
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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