A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5689515



Internal ID21715836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:169279123..169279123hg38UCSC Ensembl
chr4:170200274..170200274hg19UCSC Ensembl
Cytoband4q33
Allele length
AssemblyAllele length
hg38274
hg19274
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17174946
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)nsv5689515
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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