A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5702416



Internal ID21728737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:80018837..80018837hg38UCSC Ensembl
chr13:80592972..80592972hg19UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg38258
hg19258
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17230829, nssv17194575
Samples
Known GenesLINC01080
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)nsv5702416
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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