A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4475n100



Internal ID22790562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:18899376..18918093hg38UCSC Ensembl
chr22:18886889..18905606hg19UCSC Ensembl
chr22:17266889..17285606hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3818718
hg1918718
hg1818718
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1065453, nsv1059224
Samples
Known GenesDGCR6, PRODH
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4475n100
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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