A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5486745



Internal ID264102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:140609803..140609943hg38UCSC Ensembl
chr8:141619902..141620042hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38141
hg19141
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17019891
Samples
Known GenesAGO2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5486745
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