A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5423750



Internal ID202762
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 StatusM
Merged Variants
Supporting Variantsnssv17741687
Samples
Known GenesPCDH19
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5423750
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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