A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5703249



Internal ID21729570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:104649134..104649134hg38UCSC Ensembl
chr14:105115471..105115471hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38269
hg19269
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17196440
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)nsv5703249
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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