A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17739049



Internal ID162715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:2838546..3174066hg38UCSC Ensembl
chrX:2756587..3092107hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38335521
hg19335521
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6139100
Supporting Variants
Samples
Known GenesARSD, ARSE, ARSF, ARSH, GYG2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17739049
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0012487


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