A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5420590



Internal ID199687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:124461724..124471620hg38UCSC Ensembl
chrX:123595574..123605470hg19UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg389897
hg199897
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17742209
Samples
Known GenesTENM1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5420590
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