A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv591n54



Internal ID20134015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:158745498..158759556hg38UCSC Ensembl
chr1:158715288..158729346hg19UCSC Ensembl
chr1:156981912..156995970hg18UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg3814059
hg1914059
hg1814059
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv547994, nsv547995, nsv547993
Samples
Known GenesOR6K6
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv591n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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