A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5421213



Internal ID200296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:135131190..135811381hg38UCSC Ensembl
chrX:134265118..134931079hg19UCSC Ensembl
CytobandXq26.3
Allele length
AssemblyAllele length
hg38680192
hg19665962
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17742463
Samples
Known GenesCT45A1, CT45A2, CT45A3, CT45A4, CXorf48, DDX26B, LINC00086, LOC100506790, ZNF449, ZNF75D
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5421213
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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