A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14244038



Internal ID21306706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18794033..19018612hg38UCSC Ensembl
Outerchr22:18783014..19019471hg38UCSC Ensembl
Innerchr22:18781546..19006125hg19UCSC Ensembl
Outerchr22:18770527..19006984hg19UCSC Ensembl
Innerchr22:17161546..17386125hg18UCSC Ensembl
Outerchr22:17150527..17386984hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38236458
hg19236458
hg18236458
Variant TypeCNV duplication
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3170239
Supporting Variants
SamplesNGO_3
Known GenesDGCR5, DGCR6, DGCR9, GGT3P, PRODH
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14244038
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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