A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5702812



Internal ID21729133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:51921489..51921489hg38UCSC Ensembl
chr16:51955401..51955401hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg38204
hg19204
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17217955, nssv17198749
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)nsv5702812
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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