A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv125n145



Internal ID22813141
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:237040070..237044000hg38UCSC Ensembl
chr1:237203370..237207300hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg383931
hg193931
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3118237, nsv3114692, nsv3111592
Samplessample404, sample308, sample81, sample300, sample378, sample372, sample397, sample304, sample296, sample250
Known GenesRYR2
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)dgv125n145
Frequency
Sample Size467
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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