A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv674n54



Internal ID22768569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:187762486..187842893hg38UCSC Ensembl
chr1:187731617..187812024hg19UCSC Ensembl
chr1:185998240..186078647hg18UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg3880408
hg1980408
hg1880408
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv548447, nsv548448
SamplesHGDP00658, HGDP00664
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv674n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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