A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3589366



Internal ID18540961
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18760915..18992199hg38UCSC Ensembl
Innerchr22:18748428..18979712hg19UCSC Ensembl
Innerchr22:17128428..17359712hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38231285
hg19231285
hg18231285
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1058219
Supporting Variants
Samples
Known GenesDGCR5, DGCR6, GGT3P, PRODH
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3589366
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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