A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5681454



Internal ID21707775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:134781058..134781058hg38UCSC Ensembl
chr2:135538628..135538628hg19UCSC Ensembl
Cytoband2q21.3
Allele length
AssemblyAllele length
hg38243
hg19243
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17219998, nssv17209134
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)nsv5681454
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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