A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3241159



Internal ID22374894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:134092276..134092336hg38UCSC Ensembl
chr11:133962171..133962231hg19UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV mobile element deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14385905
SamplesNA19240
Known GenesJAM3
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3241159
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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