A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5681718



Internal ID21708039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:138055897..138055897hg38UCSC Ensembl
chr2:138813467..138813467hg19UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg38223
hg19223
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17220048, nssv17205993
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)nsv5681718
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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