A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5706283



Internal ID21732604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:81356966..81356966hg38UCSC Ensembl
chr14:81823310..81823310hg19UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg38241
hg19241
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17196621, nssv17229180
Samples
Known GenesSTON2
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)nsv5706283
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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