A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv920n54



Internal ID20134344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:248598811..248652258hg38UCSC Ensembl
chr1:248762112..248815559hg19UCSC Ensembl
chr1:246828735..246882182hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3853448
hg1953448
hg1853448
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv549729, nsv549728, nsv549725, nsv549736, nsv549734
Samples
Known GenesOR2T11, OR2T27, OR2T35
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv920n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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