A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5711296



Internal ID21737617
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:33938210..33938210hg38UCSC Ensembl
chr21:35310514..35310514hg19UCSC Ensembl
Cytoband21q22.11
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 Variantsnssv17204355
Samples
Known GenesLINC00649
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)nsv5711296
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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