A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3558n152



Internal ID22819261
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:40089101..40092700hg38UCSC Ensembl
chr17:38245354..38248953hg19UCSC Ensembl
Cytoband17q21.1
Allele length
AssemblyAllele length
hg383600
hg193600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3219808, nsv3213739
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesTHRA
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)dgv3558n152
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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