A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4504n100



Internal ID20156120
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:22175461..22365388hg38UCSC Ensembl
chr22:22529847..22719756hg19UCSC Ensembl
chr22:20859847..21049756hg18UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38189928
hg19189910
hg18189910
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1064061, nsv1062916
Samples
Known GenesBMS1P20, VPREB1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4504n100
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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