A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4497n100



Internal ID19014865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:21953147..22225090hg38UCSC Ensembl
chr22:22307519..22579483hg19UCSC Ensembl
chr22:20637519..20909483hg18UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38271944
hg19271965
hg18271965
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1065460, nsv1058439, nsv1060074
Samples
Known GenesTOP3B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4497n100
Frequency
Sample Size29084
Observed Gain19
Observed Loss9
Observed Complex0
Frequencyn/a


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