A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5681245



Internal ID21707566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:11348672..11348672hg38UCSC Ensembl
chr5:11348784..11348784hg19UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38150
hg19150
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17175370, nssv17212022
Samples
Known GenesCTNND2
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)nsv5681245
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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