A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588602



Internal ID16029325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:23323169..24547614hg38UCSC Ensembl
Innerchr22:23665356..24943582hg19UCSC Ensembl
Innerchr22:21995356..23273582hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg381224446
hg191278227
hg181278227
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8039n54
Supporting Variantsnssv952621
Samples
Known GenesADORA2A, ADORA2A-AS1, C22orf15, C22orf43, CABIN1, CES5AP1, CHCHD10, DDT, DDTL, DERL3, GGT5, GSTT1, GSTT2, GSTT2B, GSTTP1, GSTTP2, GUCD1, GUSBP11, IGLL1, LOC284889, LOC391322, MIF, MMP11, POM121L9P, RGL4, SLC2A11, SMARCB1, 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)nsv588602
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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