A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5700513



Internal ID21726834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:129840970..129840970hg38UCSC Ensembl
chr11:129710865..129710865hg19UCSC Ensembl
Cytoband11q24.3
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 Variantsnssv17216419
Samples
Known GenesTMEM45B
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)nsv5700513
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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