A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5704259



Internal ID21730580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:23404543..23404543hg38UCSC Ensembl
chr20:23385180..23385180hg19UCSC Ensembl
Cytoband20p11.21
Allele length
AssemblyAllele length
hg38158
hg19158
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17221925, nssv17202879
Samples
Known GenesNAPB
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)nsv5704259
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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