A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5711931



Internal ID21738252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:45223417..45223417hg38UCSC Ensembl
chr20:43852058..43852058hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17200944, nssv17219689
Samples
Known GenesSEMG2
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)nsv5711931
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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