A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv702643



Internal ID15092609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18890274..18953944hg38UCSC Ensembl
Innerchr22:18877787..18941457hg19UCSC Ensembl
Innerchr22:17257787..17321457hg18UCSC Ensembl
Innerchr22:17252341..17316011hg17UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3863671
hg1963671
hg1863671
hg1763671
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516997
Supporting Variants
Samples
Known GenesDGCR6, PRODH
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv702643
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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