A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17948



Internal ID15483750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12013694..12213312hg17UCSC Ensembl
Outerchr8:12013117..12213979hg17UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg17200863
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8288
Supporting Variants
SamplesNA12155
Known Genes
MethodOligo aCGH
AnalysisStatistical threshold = 5.0, minimum +/- log2 ratio = 0.25 and minimum number of probes = 2
PlatformAgilent-015686 Custom Human 244K CGH Microarray
Comments
ReferencePerry_et_al_2008
Pubmed ID18304495
Accession Number(s)nssv17948
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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