A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5710466



Internal ID21736787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:51669859..51669859hg38UCSC Ensembl
chr14:52136577..52136577hg19UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg38266
hg19266
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17194814, nssv17216486
Samples
Known GenesFRMD6
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)nsv5710466
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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