A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5718471



Internal ID21744792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:102425699..102425699hg38UCSC Ensembl
chr10:104185456..104185456hg19UCSC Ensembl
Cytoband10q24.32
Allele length
AssemblyAllele length
hg38369
hg19369
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17252216
Samples
Known GenesCUEDC2
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a SVA mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5718471
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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