A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5686240



Internal ID21712561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:142136501..142136501hg38UCSC Ensembl
chr2:142894070..142894070hg19UCSC Ensembl
Cytoband2q22.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17221593, nssv17206045
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)nsv5686240
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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