A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030459



Internal ID18772990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:117827940..118143596hg38UCSC Ensembl
Innerchr8:118840179..119155835hg19UCSC Ensembl
Innerchr8:118909360..119225016hg18UCSC Ensembl
Cytoband8q24.11
Allele length
AssemblyAllele length
hg38315657
hg19315657
hg18315657
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3757360
Samples
Known GenesEXT1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1030459
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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