A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5690260



Internal ID21716581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:134113545..134113545hg38UCSC Ensembl
chr3:133832389..133832389hg19UCSC Ensembl
Cytoband3q22.2
Allele length
AssemblyAllele length
hg38264
hg19264
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17223730, nssv17208396
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)nsv5690260
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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