A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5694744



Internal ID21721065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:12016163..12016163hg38UCSC Ensembl
chr10:12058162..12058162hg19UCSC Ensembl
Cytoband10p14
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17188401
Samples
Known GenesUPF2
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)nsv5694744
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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