A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv662698



Internal ID15052664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18890274..18994584hg38UCSC Ensembl
Innerchr22:18877787..18982097hg19UCSC Ensembl
Innerchr22:17257787..17362097hg18UCSC Ensembl
Innerchr22:17252341..17356651hg17UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38104311
hg19104311
hg18104311
hg17104311
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516997
Supporting Variants
Samples
Known GenesDGCR5, DGCR6, PRODH
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv662698
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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