A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5430913



Internal ID209706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:134942955..134945021hg38UCSC Ensembl
chrX:134076985..134079051hg19UCSC Ensembl
CytobandXq26.3
Allele length
AssemblyAllele length
hg382067
hg192067
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17742456
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5430913
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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