A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5706492



Internal ID21732813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:121600180..121600180hg38UCSC Ensembl
chr8:122612420..122612420hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17186183, nssv17213846
Samples
Known Genes
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)nsv5706492
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer