A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5511841



Internal ID288411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:119066368..119340368hg38UCSC Ensembl
chr10:120825880..121099880hg19UCSC Ensembl
Cytoband10q26.11
Allele length
AssemblyAllele length
hg38274001
hg19274001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17040849
Samples
Known GenesEIF3A, FAM45A, FAM45B, GRK5, PRDX3, SFXN4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5511841
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