A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5701305



Internal ID21727626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:7348034..7348034hg38UCSC Ensembl
chr20:7328681..7328681hg19UCSC 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 Variantsnssv17221097, nssv17202838
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)nsv5701305
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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