A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14243183



Internal ID21312975
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18806434..19018612hg38UCSC Ensembl
Outerchr22:18794033..19019471hg38UCSC Ensembl
Innerchr22:18793947..19006125hg19UCSC Ensembl
Outerchr22:18781546..19006984hg19UCSC Ensembl
Innerchr22:17173947..17386125hg18UCSC Ensembl
Outerchr22:17161546..17386984hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38225439
hg19225439
hg18225439
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3170239
Supporting Variants
SamplesSNI_6
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)nssv14243183
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer