A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4562n100



Internal ID20156178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:33451090..33538478hg38UCSC Ensembl
chr22:33847076..33934464hg19UCSC Ensembl
chr22:32177076..32264464hg18UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3887389
hg1987389
hg1887389
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1064943, nsv1065776, nsv1063275, nsv1063011, nsv1067480
Samples
Known GenesLARGE
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4562n100
Frequency
Sample Size29084
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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