A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5708545



Internal ID21734866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:111638650..111638650hg38UCSC Ensembl
chr9:114400930..114400930hg19UCSC Ensembl
Cytoband9q31.3
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 Variantsnssv17216291, nssv17187556
Samples
Known GenesDNAJC25, DNAJC25-GNG10
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)nsv5708545
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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