A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5713079



Internal ID21739400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:36154374..36154374hg38UCSC Ensembl
chr14:36623580..36623580hg19UCSC Ensembl
Cytoband14q13.3
Allele length
AssemblyAllele length
hg38233
hg19233
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17228720, nssv17194718
Samples
Known GenesLINC00609, PTCSC3
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)nsv5713079
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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