A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5712041



Internal ID21738362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:33462325..33462325hg38UCSC Ensembl
chr21:34834632..34834632hg19UCSC Ensembl
Cytoband21q22.11
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 Variantsnssv17204345
Samples
Known GenesTMEM50B
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)nsv5712041
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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