A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1151478



Internal ID15507078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21994691..22219245hg38UCSC Ensembl
Innerchr22:22349088..22573637hg19UCSC Ensembl
Innerchr22:20679088..20903637hg18UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38224555
hg19224550
hg18224550
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv588351
Supporting Variants
Samples1780854430_A
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1151478
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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