A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5707212



Internal ID21733533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:20565046..20565046hg38UCSC Ensembl
chr20:20545690..20545690hg19UCSC Ensembl
Cytoband20p11.23
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17202850
Samples
Known GenesRALGAPA2
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)nsv5707212
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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