A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17217894



Internal ID21665403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:39449250..39449250hg38UCSC Ensembl
chr14:39918454..39918454hg19UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5702930
Supporting Variants
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)nssv17217894
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