A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17742471



Internal ID166137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:135316457..135319587hg38UCSC Ensembl
chrX:134450383..134453513hg19UCSC Ensembl
CytobandXq26.3
Allele length
AssemblyAllele length
hg383131
hg193131
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5433089
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17742471
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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