A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv653n54



Internal ID20134077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:179487224..179488597hg38UCSC Ensembl
chr1:179456359..179457732hg19UCSC Ensembl
chr1:177722982..177724355hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg381374
hg191374
hg181374
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv548329, nsv548323, nsv548324, nsv548325
Samples
Known GenesAXDND1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv653n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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