A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7491n152



Internal ID22823194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:115654880..115654953hg38UCSC Ensembl
chr5:114990577..114990650hg19UCSC Ensembl
Cytoband5q22.3
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3286068, nsv3526290
SamplesHG00512, NA19238, NA19239, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesLOC102467217
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)dgv7491n152
Frequency
Sample Size9
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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