A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3557820



Internal ID22426624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:112213893..112213893hg38UCSC Ensembl
chr11:112084616..112084616hg19UCSC Ensembl
Cytoband11q23.1
Allele length
AssemblyAllele length
hg381026
hg191026
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14380261
SamplesNA19240
Known GenesBCO2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a L1P mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3557820
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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