A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14247988



Internal ID21309391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18190118..19018612hg38UCSC Ensembl
Outerchr22:18173093..19019471hg38UCSC Ensembl
Innerchr22:18672885..19006125hg19UCSC Ensembl
Outerchr22:18655860..19006984hg19UCSC Ensembl
Innerchr22:17052885..17386125hg18UCSC Ensembl
Outerchr22:17035860..17386984hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38846379
hg19351125
hg18351125
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3170239
Supporting Variants
SamplesNGO_5
Known GenesDGCR5, DGCR6, DGCR9, GGT3P, PRODH, USP18
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14247988
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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