A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5705694



Internal ID21732015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:41771406..41771406hg38UCSC Ensembl
chr15:42063604..42063604hg19UCSC Ensembl
Cytoband15q15.1
Allele length
AssemblyAllele length
hg3892
hg1992
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17196052
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)nsv5705694
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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