A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1063399



Internal ID18805930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18902533..19014328hg38UCSC Ensembl
Innerchr22:18890046..19001841hg19UCSC Ensembl
Innerchr22:17270046..17381841hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38111796
hg19111796
hg18111796
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4476n100
Supporting Variantsnssv3731852
Samples
Known GenesDGCR5, DGCR6, PRODH
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1063399
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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