A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5706812



Internal ID21733133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:75354394..75354394hg38UCSC Ensembl
chr14:75821097..75821097hg19UCSC Ensembl
Cytoband14q24.3
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 Variantsnssv17229859, nssv17196885
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)nsv5706812
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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