A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5678293



Internal ID21704614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:126185579..126185579hg38UCSC Ensembl
chr3:125904422..125904422hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17221116, nssv17211417
Samples
Known GenesALDH1L1-AS2
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)nsv5678293
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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