A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1067526



Internal ID18810057
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 StatusM
Merged Variantsdgv4474n100
Supporting Variantsnssv3587289, nssv3587290
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)nsv1067526
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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