A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1062214



Internal ID18804745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21960705..22218591hg38UCSC Ensembl
Innerchr22:22315077..22572983hg19UCSC Ensembl
Innerchr22:20645077..20902983hg18UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38257887
hg19257907
hg18257907
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4494n100
Supporting Variantsnssv3731943, nssv3731944
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)nsv1062214
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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