A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5712093



Internal ID21738414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:124542818..124542818hg38UCSC Ensembl
chr8:125555059..125555059hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg38260
hg19260
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17185104
Samples
Known GenesNDUFB9
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5712093
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