A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv666n54



Internal ID20134090
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:186671926..186674232hg38UCSC Ensembl
chr1:186641058..186643364hg19UCSC Ensembl
chr1:184907681..184909987hg18UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg382307
hg192307
hg182307
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv548401, nsv548402
Samples
Known GenesPTGS2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv666n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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