A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1055752



Internal ID18798283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:19960814..20013499hg38UCSC Ensembl
Innerchr22:19948337..20001022hg19UCSC Ensembl
Innerchr22:18328337..18381022hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3852686
hg1952686
hg1852686
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3587349
Samples
Known GenesARVCF, COMT, MIR4761
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1055752
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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