A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5708396



Internal ID21734717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:14222901..14222901hg38UCSC Ensembl
chr16:14316758..14316758hg19UCSC Ensembl
Cytoband16p13.12
Allele length
AssemblyAllele length
hg38278
hg19278
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17197698, nssv17221327
Samples
Known GenesMKL2
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)nsv5708396
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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