A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5700009



Internal ID21726330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:4294475..4294475hg38UCSC Ensembl
chr20:4275122..4275122hg19UCSC Ensembl
Cytoband20p13
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 Variantsnssv17202795
Samples
Known Genes
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)nsv5700009
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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