A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4532n100



Internal ID20156148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:23925904..23995743hg38UCSC Ensembl
chr22:24268091..24337937hg19UCSC Ensembl
chr22:22598091..22667937hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg3869840
hg1969847
hg1869847
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1057609, nsv1066122, nsv1064202, nsv1060824, nsv1056111
Samples
Known GenesDDT, DDTL, GSTT2, GSTT2B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4532n100
Frequency
Sample Size29084
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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