A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5424299



Internal ID203294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:92214276..92230811hg38UCSC Ensembl
chrX:91469275..91485810hg19UCSC Ensembl
CytobandXq21.31
Allele length
AssemblyAllele length
hg3816536
hg1916536
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17741453
Samples
Known GenesPCDH11X
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5424299
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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