A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5709941



Internal ID21736262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:8205996..8205996hg38UCSC Ensembl
chr20:8186643..8186643hg19UCSC Ensembl
Cytoband20p12.3
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 Variantsnssv17200882, nssv17231343
Samples
Known GenesPLCB1
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)nsv5709941
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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