A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5708160



Internal ID21734481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:70376265..70376265hg38UCSC Ensembl
chr14:70842982..70842982hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg38140
hg19140
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17220390, nssv17196856
Samples
Known GenesSYNJ2BP, SYNJ2BP-COX16
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)nsv5708160
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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