A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8385



Internal ID15846297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:119136831..119149050hg38UCSC Ensembl
Outerchr8:120149070..120161289hg19UCSC Ensembl
Outerchr8:120218251..120230470hg18UCSC Ensembl
Outerchr8:120218251..120230470hg17UCSC Ensembl
Cytoband8q24.12
Allele length
AssemblyAllele length
hg3812220
hg1912220
hg1812220
hg1712220
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16796, nssv17132, nssv16937, nssv17793, nssv19903, nssv16309, nssv17476, nssv16824, nssv18518, nssv18249, nssv17344, nssv17796, nssv17778, nssv18991, nssv17445, nssv15641, nssv20363, nssv16300, nssv17395, nssv16522, nssv17767, nssv16475, nssv21600
SamplesNA11830, NA18980, NA07029, NA18504, NA12155, NA18563, NA12802, NA18942, NA07048, NA10839, NA18975, NA19007, NA10847, NA10863, NA12872, NA18572, NA19221, NA18537, NA18564, NA19240, NA12740, NA18972, NA18552
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)nsv8385
Frequency
Sample Size31
Observed Gain23
Observed Loss0
Observed Complex0
Frequencyn/a


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