A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1988n152



Internal ID22817691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:108982766..108982833hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg3868
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3211855, nsv3226409
SamplesNA19238, HG00731, HG00732, NA19240, HG00733
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)dgv1988n152
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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