A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1062311



Internal ID18804842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21960705..22133198hg38UCSC Ensembl
Innerchr22:22315077..22487591hg19UCSC Ensembl
Innerchr22:20645077..20817591hg18UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38172494
hg19172515
hg18172515
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4495n100
Supporting Variantsnssv3588847
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)nsv1062311
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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