A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057194



Internal ID18799725
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18929331..19019471hg38UCSC Ensembl
Innerchr22:18916844..19006984hg19UCSC Ensembl
Innerchr22:17296844..17386984hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3890141
hg1990141
hg1890141
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4476n100
Supporting Variantsnssv3587336
Samples
Known GenesDGCR5, DGCR9, PRODH
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1057194
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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