A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5686560



Internal ID21712881
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:160573738..160573738hg38UCSC Ensembl
chr2:161430249..161430249hg19UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17226915, nssv17209323
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)nsv5686560
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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