A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5916n152



Internal ID22821619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:29578779..29579106hg38UCSC Ensembl
chr3:29620270..29620597hg19UCSC Ensembl
Cytoband3p24.1
Allele length
AssemblyAllele length
hg38328
hg19328
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3188941, nsv3523518
SamplesHG00512, NA19238, NA19239, NA19240, HG00514
Known GenesRBMS3
MethodMerging
Sequencing
AnalysisMultiple analysis algorthms
PhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformIllumina HiSeq
See merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv5916n152
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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