A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5695869



Internal ID21722190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:89336617..89336617hg38UCSC Ensembl
chr13:89988871..89988871hg19UCSC Ensembl
Cytoband13q31.2
Allele length
AssemblyAllele length
hg38277
hg19277
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17194624, nssv17222152
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)nsv5695869
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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