A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5710672



Internal ID21736993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:46179991..46179991hg38UCSC Ensembl
chr20:44808630..44808630hg19UCSC Ensembl
Cytoband20q13.12
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 Variantsnssv17231435, nssv17200953
Samples
Known GenesCDH22
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)nsv5710672
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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