A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5687534



Internal ID21713855
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:46159731..46159731hg38UCSC Ensembl
chr4:46161748..46161748hg19UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg38249
hg19249
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17230361, nssv17211096
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)nsv5687534
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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