A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14242575



Internal ID21311899
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18822597..19018612hg38UCSC Ensembl
Outerchr22:18822581..19019471hg38UCSC Ensembl
Innerchr22:18810110..19006125hg19UCSC Ensembl
Outerchr22:18810094..19006984hg19UCSC Ensembl
Innerchr22:17190110..17386125hg18UCSC Ensembl
Outerchr22:17190094..17386984hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38196891
hg19196891
hg18196891
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3170239
Supporting Variants
SamplesSNI_14
Known GenesDGCR5, DGCR6, DGCR9, PRODH
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14242575
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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