A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5502246



Internal ID279120
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:132891911..133122203hg38UCSC Ensembl
chr10:134705415..134935707hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38230293
hg19230293
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17042458
Samples
Known GenesGPR123, LOC399829, TTC40
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5502246
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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