A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14389406



Internal ID22297868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:34093854..34093854hg38UCSC Ensembl
chr11:34115401..34115401hg19UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3521347
Supporting Variants
SamplesNA19240
Known GenesCAPRIN1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a Alu.Mosaic mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14389406
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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