A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv652n54



Internal ID20134076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:179486911..179490419hg38UCSC Ensembl
chr1:179456046..179459554hg19UCSC Ensembl
chr1:177722669..177726177hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg383509
hg193509
hg183509
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv548322, nsv548328, nsv548327
Samples
Known GenesAXDND1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv652n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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