A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5414569



Internal ID193843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:124425400..124427474hg38UCSC Ensembl
chrX:123559250..123561324hg19UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg382075
hg192075
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17742208
Samples
Known GenesTENM1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5414569
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