A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5710296



Internal ID21736617
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:32751297..32751297hg38UCSC Ensembl
chr20:31339103..31339103hg19UCSC Ensembl
Cytoband20q11.21
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 Variantsnssv17202545, nssv17226009
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)nsv5710296
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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