A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14247850



Internal ID21310917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:41117919..41172392hg38UCSC Ensembl
Outerchr22:41110666..41173605hg38UCSC Ensembl
Innerchr22:41513923..41568396hg19UCSC Ensembl
Outerchr22:41506670..41569609hg19UCSC Ensembl
Innerchr22:39843869..39898342hg18UCSC Ensembl
Outerchr22:39836616..39899555hg18UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg3862940
hg1962940
hg1862940
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169393
Supporting Variants
SamplesPML_2
Known GenesEP300
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14247850
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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