A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8039n54



Internal ID19000215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:23323169..24601506hg38UCSC Ensembl
chr22:23665356..24997473hg19UCSC Ensembl
chr22:21995356..23327473hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg381278338
hg191332118
hg181332118
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv588603, nsv588602
Samples
Known GenesADORA2A, ADORA2A-AS1, C22orf15, C22orf43, CABIN1, CES5AP1, CHCHD10, DDT, DDTL, DERL3, FAM211B, GGT1, GGT5, GSTT1, GSTT2, GSTT2B, GSTTP1, GSTTP2, GUCD1, GUSBP11, IGLL1, LOC284889, LOC391322, MIF, MMP11, POM121L9P, RGL4, SLC2A11, SMARCB1, SNRPD3, SPECC1L, SPECC1L-ADORA2A, SUSD2, UPB1, VPREB3, ZDHHC8P1, ZNF70
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv8039n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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