A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5678645



Internal ID21704966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:47507948..47507948hg38UCSC Ensembl
chr3:47549438..47549438hg19UCSC Ensembl
Cytoband3p21.31
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 Variantsnssv17208919
Samples
Known GenesELP6
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)nsv5678645
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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