A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv12433n54



Internal ID20145857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:143902404..144120626hg38UCSC Ensembl
chr8:144976572..145175529hg19UCSC Ensembl
chr8:145048560..145247517hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38218223
hg19198958
hg18198958
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv612913, nsv612900, nsv612910, nsv612905, nsv612908
Samples
Known GenesCYC1, EXOSC4, GPAA1, GRINA, KIAA1875, MAF1, MIR661, MIR6846, MIR6847, OPLAH, PARP10, PLEC, SHARPIN, SPATC1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv12433n54
Frequency
Sample Size17421
Observed Gain20
Observed Loss0
Observed Complex0
Frequencyn/a


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