A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5698232



Internal ID21724553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:114130862..114130862hg38UCSC Ensembl
chr10:115890621..115890621hg19UCSC Ensembl
Cytoband10q25.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17189250
Samples
Known GenesC10orf118
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)nsv5698232
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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