A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5502310



Internal ID279182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:125241150..125241339hg38UCSC Ensembl
chr11:125111046..125111235hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg38190
hg19190
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17053421
Samples
Known GenesPKNOX2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5502310
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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