A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5694189



Internal ID21720510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:148715276..148715276hg38UCSC Ensembl
chr3:148433063..148433063hg19UCSC Ensembl
Cytoband3q24
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 Variantsnssv17210761, nssv17214111
Samples
Known GenesAGTR1
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)nsv5694189
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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