A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5698813



Internal ID21725134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:57493738..57493738hg38UCSC Ensembl
chr14:57960456..57960456hg19UCSC Ensembl
Cytoband14q22.3
Allele length
AssemblyAllele length
hg38277
hg19277
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17216463, nssv17196548
Samples
Known GenesC14orf105
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)nsv5698813
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