A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5700729



Internal ID21727050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:33662964..33662964hg38UCSC Ensembl
chr20:32250770..32250770hg19UCSC Ensembl
Cytoband20q11.22
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 Variantsnssv17202559
Samples
Known GenesC20orf144, NECAB3
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)nsv5700729
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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