A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9576



Internal ID15847488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:59936135..59942430hg38UCSC Ensembl
Outerchr17:58013496..58019791hg19UCSC Ensembl
Outerchr17:55368278..55374573hg18UCSC Ensembl
Outerchr17:55368278..55374573hg17UCSC Ensembl
Cytoband17q23.1
Allele length
AssemblyAllele length
hg386296
hg196296
hg186296
hg176296
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv28327, nssv23653, nssv27172, nssv26356, nssv27180, nssv23967, nssv25557, nssv27473
SamplesNA18502, NA18860, NA10863, NA19221, NA18853, NA18517, NA19240, NA19144
Known GenesRPS6KB1
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)nsv9576
Frequency
Sample Size31
Observed Gain7
Observed Loss1
Observed Complex0
Frequencyn/a


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