A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv282n54



Internal ID20133706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:54627896..54629384hg38UCSC Ensembl
chr1:55093569..55095057hg19UCSC Ensembl
chr1:54866157..54867645hg18UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg381489
hg191489
hg181489
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv546296, nsv546295, nsv546292, nsv546291, nsv546293, nsv546294
Samples
Known GenesACOT11
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv282n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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