A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv626n152



Internal ID22816329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:237591114..237591189hg38UCSC Ensembl
chr1:237754414..237754489hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3206813, nsv3200871
SamplesHG00732, HG00733
Known GenesRYR2
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)dgv626n152
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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