A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5425650



Internal ID204607
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:1287058..1344974hg38UCSC Ensembl
chrX:1405951..1463867hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg3857917
hg1957917
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv558n206
Supporting Variantsnssv17738779
Samples
Known GenesCSF2RA, IL3RA, MIR3690, MIR3690-2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5425650
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