A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4464n100



Internal ID20156080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:17570790..17611340hg38UCSC Ensembl
chr22:18050855..18094106hg19UCSC Ensembl
chr22:16430855..16474106hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3840551
hg1943252
hg1843252
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1058155, nsv1055629, nsv1065122
Samples
Known GenesATP6V1E1, SLC25A18
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4464n100
Frequency
Sample Size29084
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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