A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5680430



Internal ID21706751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:100393687..100393687hg38UCSC Ensembl
chr3:100112531..100112531hg19UCSC Ensembl
Cytoband3q12.2
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17227445, nssv17207379
Samples
Known GenesTOMM70A
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)nsv5680430
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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