A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5682349



Internal ID21708670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:41946214..41946214hg38UCSC Ensembl
chr4:41948231..41948231hg19UCSC Ensembl
Cytoband4p13
Allele length
AssemblyAllele length
hg38277
hg19277
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17208639, nssv17230369
Samples
Known GenesTMEM33
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)nsv5682349
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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