A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057819



Internal ID18800350
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 StatusM
Merged Variants
Supporting Variantsnssv3588050
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)nsv1057819
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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