A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5687358



Internal ID21713679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:113161471..113161471hg38UCSC Ensembl
chr3:112880318..112880318hg19UCSC Ensembl
Cytoband3q13.2
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17216634
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)nsv5687358
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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