A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5714132



Internal ID21740453
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:21774982..21774982hg38UCSC Ensembl
chr20:21755620..21755620hg19UCSC Ensembl
Cytoband20p11.22
Allele length
AssemblyAllele length
hg38226
hg19226
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17202863
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)nsv5714132
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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