A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17737589



Internal ID161255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:130726719..130736711hg38UCSC Ensembl
chrX:129860693..129870685hg19UCSC Ensembl
CytobandXq26.1
Allele length
AssemblyAllele length
hg389993
hg199993
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5424946
Supporting Variants
Samples
Known GenesENOX2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17737589
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00249844


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