A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5682229



Internal ID21708550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:11550524..11550524hg38UCSC Ensembl
chr6:11550757..11550757hg19UCSC Ensembl
Cytoband6p24.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17214527, nssv17177252
Samples
Known GenesTMEM170B
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)nsv5682229
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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