A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5703606



Internal ID21729927
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:49990926..49990926hg38UCSC Ensembl
chr16:50024837..50024837hg19UCSC Ensembl
Cytoband16q12.1
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 Variantsnssv17198725, nssv17228956
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)nsv5703606
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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