A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1146n54



Internal ID20134570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:53034448..54727838hg38UCSC Ensembl
chr10:54794208..56487598hg19UCSC Ensembl
chr10:54464214..56157604hg18UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg381693391
hg191693391
hg181693391
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv550922, nsv550921
Samples
Known GenesPCDH15
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv1146n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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