A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5713605



Internal ID21739926
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:89913771..89913771hg38UCSC Ensembl
chr14:90380115..90380115hg19UCSC Ensembl
Cytoband14q32.11
Allele length
AssemblyAllele length
hg38267
hg19267
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17196945, nssv17231307
Samples
Known GenesEFCAB11
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)nsv5713605
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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