A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5702674



Internal ID21728995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:75886876..75886876hg38UCSC Ensembl
chr14:76353219..76353219hg19UCSC Ensembl
Cytoband14q24.3
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 Variantsnssv17196897, nssv17226465
Samples
Known GenesTTLL5
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)nsv5702674
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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