A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv366n54



Internal ID20133790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:91766554..91767463hg38UCSC Ensembl
chr1:92232111..92233020hg19UCSC Ensembl
chr1:92004699..92005608hg18UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg38910
hg19910
hg18910
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv546811, nsv546812, nsv546813
Samples
Known GenesTGFBR3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv366n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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