A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5710193



Internal ID21736514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:49138294..49138294hg38UCSC Ensembl
chr15:49430491..49430491hg19UCSC Ensembl
Cytoband15q21.1
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 Variantsnssv17197784, nssv17225424
Samples
Known GenesCOPS2
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)nsv5710193
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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