A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv372n54



Internal ID18992548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:93823114..93825696hg38UCSC Ensembl
chr1:94288670..94291252hg19UCSC Ensembl
chr1:94061258..94063840hg18UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg382583
hg192583
hg182583
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv546837, nsv546838
Samples
Known GenesBCAR3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv372n54
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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