A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5682296



Internal ID21708617
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:97441831..97441831hg38UCSC Ensembl
chr3:97160675..97160675hg19UCSC Ensembl
Cytoband3q11.2
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 Variantsnssv17221067
Samples
Known GenesEPHA6
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)nsv5682296
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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