A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv541n152



Internal ID22816244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:209904707..209912626hg38UCSC Ensembl
chr1:210078052..210085971hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg387920
hg197920
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3209085, nsv3281035, nsv3282262
SamplesHG00512, NA19239, HG00731, NA19240, HG00733, 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)dgv541n152
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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