A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9716n54



Internal ID22777611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:33399094..33475695hg38UCSC Ensembl
chr5:33399200..33475800hg19UCSC Ensembl
chr5:33434957..33511557hg18UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3876602
hg1976601
hg1876601
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv597789, nsv597790
SamplesHGDP01047, HGDP01049, HGDP01057
Known GenesTARS
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv9716n54
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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