A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17202784



Internal ID21650293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:3489369..3489369hg38UCSC Ensembl
chr20:3470016..3470016hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg38157
hg19157
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5698594
Supporting Variants
Samples
Known GenesATRN
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)nssv17202784
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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