A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv909n54



Internal ID20134333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:248525528..248631809hg38UCSC Ensembl
chr1:248688829..248795110hg19UCSC Ensembl
chr1:246755452..246861733hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38106282
hg19106282
hg18106282
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv549642, nsv549643
Samples
Known GenesOR2T10, OR2T11, OR2T29, OR2T34
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv909n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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