A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv103n145



Internal ID22813119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:196827261..196949077hg38UCSC Ensembl
chr1:196796391..196918207hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38121817
hg19121817
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3111170, nsv3112552
Samplessample400, sample54
Known GenesCFHR1, CFHR2, CFHR4
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)dgv103n145
Frequency
Sample Size467
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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