A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1067292



Internal ID18809823
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21912468..21980822hg38UCSC Ensembl
Innerchr22:22266808..22335219hg19UCSC Ensembl
Innerchr22:20596808..20665219hg18UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg3868355
hg1968412
hg1868412
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4492n100
Supporting Variantsnssv3588820
Samples
Known GenesPPM1F, TOP3B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1067292
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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