A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5693817



Internal ID21720138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:131497473..131497473hg38UCSC Ensembl
chr5:130833166..130833166hg19UCSC Ensembl
Cytoband5q31.1
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 Variantsnssv17178983
Samples
Known GenesRAPGEF6
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)nsv5693817
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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