A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4528n100



Internal ID19014896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:23322244..24682765hg38UCSC Ensembl
chr22:23664431..25078732hg19UCSC Ensembl
chr22:21994431..23408732hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg381360522
hg191414302
hg181414302
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1064623, nsv1059434, nsv1058493, nsv1060908, nsv1061148, nsv1057529
Samples
Known GenesADORA2A, ADORA2A-AS1, BCRP3, C22orf15, C22orf43, CABIN1, CES5AP1, CHCHD10, DDT, DDTL, DERL3, FAM211B, GGT1, GGT5, GSTT1, GSTT2, GSTT2B, GSTTP1, GSTTP2, GUCD1, GUSBP11, IGLL1, LOC284889, LOC391322, MIF, MMP11, POM121L10P, POM121L9P, RGL4, SLC2A11, SMARCB1, SNRPD3, SPECC1L, SPECC1L-ADORA2A, SUSD2, UPB1, VPREB3, ZDHHC8P1, ZNF70
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4528n100
Frequency
Sample Size29084
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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