A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5530113



Internal ID306108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:62462506..62469224hg38UCSC Ensembl
chr18:60129739..60136457hg19UCSC Ensembl
Cytoband18q21.33
Allele length
AssemblyAllele length
hg386719
hg196719
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17718752
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5530113
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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