A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5679061



Internal ID21705382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:20327793..20327793hg38UCSC Ensembl
chr2:20527554..20527554hg19UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17197894
Samples
Known GenesPUM2
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)nsv5679061
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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