A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4492n100



Internal ID19014860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:21908678..21981308hg38UCSC Ensembl
chr22:22263018..22335705hg19UCSC Ensembl
chr22:20593018..20665705hg18UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg3872631
hg1972688
hg1872688
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1059029, nsv1067292, nsv1059606, nsv1065464, nsv1062544, nsv1058282, nsv1060252, nsv1064533
Samples
Known GenesPPM1F, TOP3B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4492n100
Frequency
Sample Size29084
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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