A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3587289



Internal ID18538884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18897325..19038536hg38UCSC Ensembl
Innerchr22:18884838..19026049hg19UCSC Ensembl
Innerchr22:17264838..17406049hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38141212
hg19141212
hg18141212
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1067526
Supporting Variants
Samples
Known GenesDGCR10, DGCR2, DGCR5, DGCR6, 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)nssv3587289
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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