A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3287366



Internal ID22385769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:66166427..66171859hg38UCSC Ensembl
chr11:65933898..65939330hg19UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg385433
hg195433
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1428n152
Supporting Variantsnssv14374596
SamplesNA19240
Known GenesPACS1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences detected as low complexity by RepeatMasker/3.3.0
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3287366
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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