A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1065545



Internal ID18808076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21960705..22108569hg38UCSC Ensembl
Innerchr22:22315077..22462979hg19UCSC Ensembl
Innerchr22:20645077..20792979hg18UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38147865
hg19147903
hg18147903
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4495n100
Supporting Variantsnssv3731941
Samples
Known GenesTOP3B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1065545
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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