A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3588050



Internal ID18539645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:24290518..24624081hg38UCSC Ensembl
Innerchr22:24686486..25020048hg19UCSC Ensembl
Innerchr22:23016486..23350048hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38333564
hg19333563
hg18333563
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1057819
Supporting Variants
Samples
Known GenesADORA2A, ADORA2A-AS1, FAM211B, GGT1, GUCD1, SNRPD3, SPECC1L, SPECC1L-ADORA2A, UPB1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3588050
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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