A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv127n145



Internal ID22813143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:237590120..237592159hg38UCSC Ensembl
chr1:237753420..237755459hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg382040
hg192040
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3112406, nsv3117325
Samplessample392, sample55
Known GenesRYR2
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)dgv127n145
Frequency
Sample Size467
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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