A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5714248



Internal ID21740569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:114201624..114201624hg38UCSC Ensembl
chr10:115961383..115961383hg19UCSC 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 Variantsnssv17229246, nssv17189255
Samples
Known GenesTDRD1
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)nsv5714248
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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