A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3590536



Internal ID18888817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18888903..18977821hg38UCSC Ensembl
Innerchr22:18876416..18965334hg19UCSC Ensembl
Innerchr22:17256416..17345334hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3888919
hg1988919
hg1888919
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1065816
Supporting Variants
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)nssv3590536
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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