A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv278n54



Internal ID20133702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:54627522..54628371hg38UCSC Ensembl
chr1:55093195..55094044hg19UCSC Ensembl
chr1:54865783..54866632hg18UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38850
hg19850
hg18850
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv546273, nsv546274, nsv546272, nsv546271
Samples
Known GenesACOT11
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv278n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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