A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9605n152



Internal ID22825308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:76304512..76307076hg38UCSC Ensembl
chr9:78919428..78921992hg19UCSC Ensembl
Cytoband9q21.13
Allele length
AssemblyAllele length
hg382565
hg192565
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3288950, nsv3528889, nsv3283646, nsv3287653
SamplesHG00732, NA19240, HG00733, HG00514
Known GenesPCSK5
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)dgv9605n152
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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