A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3586515



Internal ID18538110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:23348113..24668997hg38UCSC Ensembl
Innerchr22:23690300..25064964hg19UCSC Ensembl
Innerchr22:22020300..23394964hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg381320885
hg191374665
hg181374665
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1057529
Supporting Variants
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)nssv3586515
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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