A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5679159



Internal ID21705480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:5785582..5785582hg38UCSC Ensembl
chr6:5785815..5785815hg19UCSC Ensembl
Cytoband6p25.1
Allele length
AssemblyAllele length
hg38178
hg19178
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17177696
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)nsv5679159
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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