A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14247143



Internal ID21310975
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:18827010..19038370hg38UCSC Ensembl
Outerchr8:18824007..19038720hg38UCSC Ensembl
Innerchr8:18684520..18895880hg19UCSC Ensembl
Outerchr8:18681517..18896230hg19UCSC Ensembl
Innerchr8:18728800..18940160hg18UCSC Ensembl
Outerchr8:18725797..18940510hg18UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38214714
hg19214714
hg18214714
Variant TypeCNV duplication
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3170225
Supporting Variants
SamplesPML_2
Known GenesPSD3
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14247143
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