A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5704680



Internal ID21731001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:95096526..95096526hg38UCSC Ensembl
chr11:94829690..94829690hg19UCSC Ensembl
Cytoband11q21
Allele length
AssemblyAllele length
hg38251
hg19251
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17191839
Samples
Known GenesENDOD1
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)nsv5704680
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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