A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5428670



Internal ID207531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:124471146..124471560hg38UCSC Ensembl
chrX:123604996..123605410hg19UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg38415
hg19415
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17742210
Samples
Known GenesTENM1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5428670
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