A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8311



Internal ID15846223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:20117532..20123413hg38UCSC Ensembl
Outerchr8:19975043..19980924hg19UCSC Ensembl
Outerchr8:20019323..20025204hg18UCSC Ensembl
Outerchr8:20019323..20025204hg17UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg385882
hg195882
hg185882
hg175882
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17205, nssv16862, nssv19973, nssv16727, nssv16526, nssv17005, nssv16524, nssv20234, nssv17508, nssv16265, nssv19497, nssv17788, nssv17343, nssv19483, nssv17377, nssv16120, nssv18571, nssv16342, nssv17556
SamplesNA11830, NA18980, NA07029, NA18504, NA18563, NA12802, NA18942, NA07048, NA18975, NA19007, NA10847, NA10863, NA18537, NA19132, NA18517, NA18564, NA19240, NA19144, NA18972
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)nsv8311
Frequency
Sample Size31
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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