A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5681060



Internal ID21707381
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:142980033..142980033hg38UCSC Ensembl
chr3:142698875..142698875hg19UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg38277
hg19277
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17227472
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)nsv5681060
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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