A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1055830



Internal ID18798361
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 StatusM
Merged Variants
Supporting Variantsnssv3588049
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)nsv1055830
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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