A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5453306



Internal ID231432
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:102335213..102356302hg38UCSC Ensembl
chr2:102951673..102972762hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg3821090
hg1921090
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16916905
Samples
Known GenesIL18R1, IL1RL1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5453306
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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