A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17741688



Internal ID165354
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:100379709..100382951hg38UCSC Ensembl
chrX:99634707..99637949hg19UCSC Ensembl
CytobandXq22.1
Allele length
AssemblyAllele length
hg383243
hg193243
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5433874
Supporting Variants
Samples
Known GenesPCDH19
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17741688
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer