A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5452258



Internal ID230418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:177189020..177191111hg38UCSC Ensembl
chr3:176906808..176908899hg19UCSC Ensembl
Cytoband3q26.32
Allele length
AssemblyAllele length
hg382092
hg192092
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16943549
Samples
Known GenesTBL1XR1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5452258
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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