A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5701216



Internal ID21727537
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:60916327..60916327hg38UCSC Ensembl
chr14:61383045..61383045hg19UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg38267
hg19267
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17196284
Samples
Known GenesMNAT1
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)nsv5701216
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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