A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17216968



Internal ID21664477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:69083098..69083098hg38UCSC Ensembl
chr14:69549815..69549815hg19UCSC Ensembl
Cytoband14q24.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5714002
Supporting Variants
Samples
Known GenesDCAF5
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)nssv17216968
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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