A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4494n100



Internal ID19014862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:21938623..22227679hg38UCSC Ensembl
chr22:22292995..22582073hg19UCSC Ensembl
chr22:20622995..20912073hg18UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38289057
hg19289079
hg18289079
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1059602, nsv1061168, nsv1055443, nsv1062214, nsv1060215, nsv1066664, nsv1060212, nsv1056696, nsv1062567, nsv1066454, nsv1063502, nsv1059754, nsv1057849, nsv1064457, nsv1059964
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)dgv4494n100
Frequency
Sample Size29084
Observed Gain31
Observed Loss0
Observed Complex0
Frequencyn/a


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