A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5687377



Internal ID21713698
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:71732393..71732393hg38UCSC Ensembl
chr3:71781544..71781544hg19UCSC Ensembl
Cytoband3p13
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17217716, nssv17209907
Samples
Known GenesEIF4E3
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)nsv5687377
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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