A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5430517



Internal ID209323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:311774..626920hg38UCSC Ensembl
chrX:228441..587655hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38315147
hg19359215
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv551n206
Supporting Variantsnssv17735967
Samples
Known GenesGTPBP6, LINC00685, PPP2R3B, SHOX
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5430517
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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