A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3588049



Internal ID18539644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:24005071..24643213hg38UCSC Ensembl
Innerchr22:24401517..25039180hg19UCSC Ensembl
Innerchr22:22731517..23369180hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38638143
hg19637664
hg18637664
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1055830
Supporting Variants
Samples
Known GenesADORA2A, ADORA2A-AS1, BCRP3, CABIN1, FAM211B, GGT1, GGT5, GSTTP2, GUCD1, POM121L9P, SNRPD3, SPECC1L, SPECC1L-ADORA2A, SUSD2, UPB1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3588049
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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