A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5497078



Internal ID274136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:125924006..125924154hg38UCSC Ensembl
chr11:125793901..125794049hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg38149
hg19149
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17053469
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5497078
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