A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3283066



Internal ID22381405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:123681712..123681772hg38UCSC Ensembl
chr11:123552420..123552480hg19UCSC Ensembl
Cytoband11q24.1
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1610n152
Supporting Variantsnssv14446566, nssv14378762
SamplesNA19240, HG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3283066
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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