A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv10250n54



Internal ID22778145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:181004169..181086467hg38UCSC Ensembl
chr5:180431169..180513467hg19UCSC Ensembl
chr5:180363775..180446073hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3882299
hg1982299
hg1882299
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv600703, nsv600704
SamplesHGDP00286
Known GenesBTNL3, BTNL9, MIR8089
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv10250n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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