A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3050n54



Internal ID20136474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132509852..132512278hg38UCSC Ensembl
chr12:133086438..133088864hg19UCSC Ensembl
chr12:131596511..131598937hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg382427
hg192427
hg182427
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv561096, nsv561099
Samples
Known GenesFBRSL1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv3050n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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