A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4467n100



Internal ID22790554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:18166204..19019471hg38UCSC Ensembl
chr22:18648971..19006984hg19UCSC Ensembl
chr22:17028971..17386984hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38853268
hg19358014
hg18358014
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1055430, nsv1062958, nsv1059601, nsv1060737, nsv1061750
Samples
Known GenesDGCR5, DGCR6, DGCR9, GGT3P, PRODH, USP18
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4467n100
Frequency
Sample Size11257
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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