A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv475n100



Internal ID20152091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:180156531..180210921hg38UCSC Ensembl
chr1:180125666..180180056hg19UCSC Ensembl
chr1:178392289..178446679hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg3854391
hg1954391
hg1854391
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1008644, nsv1001540, nsv1009112, nsv1011933, nsv1014345, nsv1000781, nsv1006153, nsv1009958
Samples
Known GenesFLJ23867, QSOX1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv475n100
Frequency
Sample Size29084
Observed Gain21
Observed Loss0
Observed Complex0
Frequencyn/a


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