A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5428135



Internal ID207015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:149653606..149783606hg38UCSC Ensembl
chrX:148735274..148865268hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg38130001
hg19129995
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17737916
Samples
Known GenesHSFX1, HSFX2, MAGEA11, MAGEA9, MAGEA9B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5428135
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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