A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3188073



Internal ID22340062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:26300922..26301140hg38UCSC Ensembl
chr11:26322469..26322687hg19UCSC Ensembl
Cytoband11p14.2
Allele length
AssemblyAllele length
hg38219
hg19219
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14388478
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a AluS mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3188073
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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