A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4564n100



Internal ID20156180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:36218252..36319792hg38UCSC Ensembl
chr22:36614298..36715837hg19UCSC Ensembl
chr22:34944244..35045783hg18UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg38101541
hg19101540
hg18101540
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1064449, nsv1066857, nsv1059712, nsv1060020, nsv1058221, nsv1064629, nsv1063410, nsv1061802, nsv1063231
Samples
Known GenesAPOL1, APOL2, MIR6819, MYH9
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4564n100
Frequency
Sample Size29084
Observed Gain21
Observed Loss0
Observed Complex0
Frequencyn/a


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