A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4495n100



Internal ID19014863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:21943275..22133198hg38UCSC Ensembl
chr22:22297647..22487591hg19UCSC Ensembl
chr22:20627647..20817591hg18UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38189924
hg19189945
hg18189945
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1065545, nsv1055827, nsv1058463, nsv1056665, nsv1062311
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)dgv4495n100
Frequency
Sample Size29084
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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