A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5710724



Internal ID21737045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:60180621..60180621hg38UCSC Ensembl
chr20:58755679..58755679hg19UCSC Ensembl
Cytoband20q13.33
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 Variantsnssv17202640, nssv17229193
Samples
Known GenesLOC284757
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)nsv5710724
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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