A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5695647



Internal ID21721968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:50785421..50785421hg38UCSC Ensembl
chr16:50819332..50819332hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg38118
hg19118
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17198737, nssv17219359
Samples
Known GenesCYLD
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)nsv5695647
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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