A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4469n100



Internal ID20156085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:18760915..19037281hg38UCSC Ensembl
chr22:18748428..19024794hg19UCSC Ensembl
chr22:17128428..17404794hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38276367
hg19276367
hg18276367
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1065156, nsv1055630, nsv1058219, nsv1065669
Samples
Known GenesDGCR10, DGCR2, DGCR5, DGCR6, DGCR9, GGT3P, PRODH
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4469n100
Frequency
Sample Size29084
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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