A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5422252



Internal ID201300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:2655643..2992295hg38UCSC Ensembl
chrX:2573684..2910336hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38336653
hg19336653
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17739039
Samples
Known GenesARSD, ARSE, CD99, CD99P1, GYG2, XG, XGPY2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5422252
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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