A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3596n152



Internal ID22819299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:54337356..54337468hg38UCSC Ensembl
chr17:52414717..52414829hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg38113
hg19113
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3528419, nsv3288698
SamplesHG00512, HG00514
Known Genes
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)dgv3596n152
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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