A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv12050n54



Internal ID20145474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:18996177..19000683hg38UCSC Ensembl
chr8:18853687..18858193hg19UCSC Ensembl
chr8:18897967..18902473hg18UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg384507
hg194507
hg184507
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv610735, nsv610738, nsv610733, nsv610732, nsv610739, nsv610734
Samples
Known GenesPSD3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv12050n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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