A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3558146



Internal ID22426949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:19618907..19618907hg38UCSC Ensembl
chr11:19640453..19640453hg19UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg38403
hg19403
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14380060, nssv14442802, nssv14415376
SamplesNA19240, HG00733, HG00514
Known GenesNAV2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3558146
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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