A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5710516



Internal ID21736837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:71076034..71076034hg38UCSC Ensembl
chr14:71542751..71542751hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg38257
hg19257
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17195850
Samples
Known GenesPCNX
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)nsv5710516
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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