A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5704759



Internal ID21731080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:83440938..83440938hg38UCSC Ensembl
chr15:84109690..84109690hg19UCSC Ensembl
Cytoband15q25.2
Allele length
AssemblyAllele length
hg38269
hg19269
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17198182
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)nsv5704759
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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