A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1156599



Internal ID15507834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:43169482..43936548hg38UCSC Ensembl
Innerchr8:43024625..43791691hg19UCSC Ensembl
Innerchr8:43143782..43910848hg18UCSC Ensembl
Cytoband8p11.1
Allele length
AssemblyAllele length
hg38767067
hg19767067
hg18767067
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv611144
Supporting Variants
Samples1780862177_A
Known GenesHGSNAT, POTEA
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1156599
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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