A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5484311



Internal ID261725
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:122343993..122345445hg38UCSC Ensembl
chr8:123356232..123357684hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg381453
hg191453
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17017544
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5484311
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