A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5685973



Internal ID21712294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:27214841..27214841hg38UCSC Ensembl
chr3:27256332..27256332hg19UCSC Ensembl
Cytoband3p24.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17232838, nssv17210339
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)nsv5685973
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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