A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17741687



Internal ID165353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:100363688..100363745hg38UCSC Ensembl
chrX:99618686..99618743hg19UCSC Ensembl
CytobandXq22.1
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5423750
Supporting Variants
Samples
Known GenesPCDH19
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17741687
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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