A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv10112n54



Internal ID20143536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:149851167..149881249hg38UCSC Ensembl
chr5:149230730..149260812hg19UCSC Ensembl
chr5:149210923..149241005hg18UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3830083
hg1930083
hg1830083
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv599951, nsv599952
SamplesHGDP00161, HGDP00155
Known GenesPDE6A, PPARGC1B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv10112n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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