A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5452239



Internal ID230399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:197564560..197564668hg38UCSC Ensembl
chr2:198429284..198429392hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38109
hg19109
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16923652
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5452239
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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