A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5712778



Internal ID21739099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:88901293..88901293hg38UCSC Ensembl
chr14:89367637..89367637hg19UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg38278
hg19278
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17195940, nssv17229493
Samples
Known Genes
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)nsv5712778
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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