A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17735967



Internal ID159633
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 StatusS
Merged Variantsnsv5430517
Supporting Variants
Samples
Known GenesGTPBP6, LINC00685, PPP2R3B, SHOX
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17735967
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00146107


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