A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7208n152



Internal ID22822911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:13855192..13855507hg38UCSC Ensembl
chr5:13855301..13855616hg19UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38316
hg19316
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3524144, nsv3188762
SamplesHG00512, NA19239, HG00732, HG00733
Known GenesDNAH5
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)dgv7208n152
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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