A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14248318



Internal ID21304716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:2176090..2195396hg38UCSC Ensembl
Outerchr8:2173516..2198621hg38UCSC Ensembl
Innerchr8:2124280..2142927hg19UCSC Ensembl
Outerchr8:2121444..2146174hg19UCSC Ensembl
Innerchr8:2111687..2130334hg18UCSC Ensembl
Outerchr8:2108851..2133581hg18UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg3825106
hg1924731
hg1824731
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169893
Supporting Variants
SamplesNGO_15
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14248318
Frequency
Sample Size93
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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