A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5868518



Internal ID22643453
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:2448174..2470543hg38UCSC Ensembl
chrX:2366215..2388584hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg3822370
hg1922370
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2267n209
Supporting Variantsnssv17464537
Samples
Known GenesDHRSX
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5868518
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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