A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5704299



Internal ID21730620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:21858064..21858064hg38UCSC Ensembl
chr14:22326241..22326241hg19UCSC Ensembl
Cytoband14q11.2
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 Variantsnssv17213981, nssv17194687
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)nsv5704299
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