A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5687083



Internal ID21713404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:31381863..31381863hg38UCSC Ensembl
chr3:31423355..31423355hg19UCSC Ensembl
Cytoband3p23
Allele length
AssemblyAllele length
hg38107
hg19107
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17223419, nssv17210382
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)nsv5687083
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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