A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5709986



Internal ID21736307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:47505029..47505029hg38UCSC Ensembl
chr20:46133773..46133773hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17200972, nssv17229701
Samples
Known GenesNCOA3
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)nsv5709986
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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