A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5695764



Internal ID21722085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:75098318..75098318hg38UCSC Ensembl
chr14:75565021..75565021hg19UCSC Ensembl
Cytoband14q24.3
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 Variantsnssv17196881, nssv17220129
Samples
Known GenesNEK9
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)nsv5695764
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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