A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5709665



Internal ID21735986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:54486885..54486885hg38UCSC Ensembl
chr14:54953603..54953603hg19UCSC Ensembl
Cytoband14q22.2
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17196851, nssv17216619
Samples
Known GenesGMFB
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)nsv5709665
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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