A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5686775



Internal ID21713096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:170864748..170864748hg38UCSC Ensembl
chr5:170291752..170291752hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg38190
hg19190
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17177662, nssv17213693
Samples
Known GenesRANBP17
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)nsv5686775
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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