A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5712321



Internal ID21738642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:18120152..18120152hg38UCSC Ensembl
chr11:18141699..18141699hg19UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17190425
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)nsv5712321
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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