A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv12n145



Internal ID22813028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:25429952..25434801hg38UCSC Ensembl
chr1:25756443..25761292hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg384850
hg194850
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3116091, nsv3114211
Samplessample359, sample362
Known GenesTMEM57
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)dgv12n145
Frequency
Sample Size467
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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