A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4463n100



Internal ID20156079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:16749141..17081023hg38UCSC Ensembl
chr22:17230031..17561913hg19UCSC Ensembl
chr22:15610031..15941913hg18UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38331883
hg19331883
hg18331883
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1057947, nsv1062747
Samples
Known GenesCECR7, GAB4, HSFY1P1, XKR3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4463n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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