A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5684160



Internal ID21710481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:47868455..47868455hg38UCSC Ensembl
chr4:47870472..47870472hg19UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17227635
Samples
Known GenesNFXL1
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)nsv5684160
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