A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5441135



Internal ID219617
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:197953736..197972087hg38UCSC Ensembl
chr2:198818460..198836811hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg3818352
hg1918352
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16927784
Samples
Known GenesPLCL1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5441135
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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