A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5707108



Internal ID21733429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:25880274..25880274hg38UCSC Ensembl
chr14:26349480..26349480hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17195754
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)nsv5707108
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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