A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv367n54



Internal ID20133791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:91766554..91767723hg38UCSC Ensembl
chr1:92232111..92233280hg19UCSC Ensembl
chr1:92004699..92005868hg18UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg381170
hg191170
hg181170
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv546817, nsv546815, nsv546814, nsv546816
Samples
Known GenesTGFBR3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv367n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss202
Observed Complex0
Frequencyn/a


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