A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5704833



Internal ID21731154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:60482454..60482454hg38UCSC Ensembl
chr14:60949172..60949172hg19UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17223936, nssv17196280
Samples
Known GenesC14orf39
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)nsv5704833
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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