A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5697770



Internal ID21724091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:17731781..17731781hg38UCSC Ensembl
chr20:17712426..17712426hg19UCSC Ensembl
Cytoband20p12.1
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 Variantsnssv17203152, nssv17222351
Samples
Known GenesBANF2
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)nsv5697770
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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