A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv651n54



Internal ID20134075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:179486911..179489070hg38UCSC Ensembl
chr1:179456046..179458205hg19UCSC Ensembl
chr1:177722669..177724828hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg382160
hg192160
hg182160
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv548319, nsv548321, nsv548320, nsv548318
Samples
Known GenesAXDND1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv651n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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