A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3587274



Internal ID18538869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18888903..19047585hg38UCSC Ensembl
Innerchr22:18876416..19035098hg19UCSC Ensembl
Innerchr22:17256416..17415098hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38158683
hg19158683
hg18158683
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1060895
Supporting Variants
Samples
Known GenesDGCR10, DGCR11, 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)nssv3587274
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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