A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3183045



Internal ID22337421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:65842769..65843042hg38UCSC Ensembl
chr11:65610240..65610513hg19UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg38274
hg19274
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14418009
SamplesHG00514
Known GenesSNX32
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)nsv3183045
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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