A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5452894



Internal ID231036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:233029648..233029729hg38UCSC Ensembl
chr1:233165394..233165475hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg3882
hg1982
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16898360
Samples
Known GenesPCNXL2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5452894
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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