A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5712359



Internal ID21738680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:129947400..129947400hg38UCSC Ensembl
chr8:130959646..130959646hg19UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17185599
Samples
Known GenesFAM49B
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)nsv5712359
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