A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17184591



Internal ID21632100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:28452932..28452932hg38UCSC Ensembl
chr8:28310449..28310449hg19UCSC Ensembl
Cytoband8p21.1
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5703281
Supporting Variants
Samples
Known GenesFBXO16
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)nssv17184591
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