A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5703757



Internal ID21730078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:4353040..4353040hg38UCSC Ensembl
chr10:4395232..4395232hg19UCSC Ensembl
Cytoband10p15.1
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17187008
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)nsv5703757
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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