A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27473



Internal ID15838573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:59937263..59940614hg38UCSC Ensembl
Outerchr17:59936135..59941253hg38UCSC Ensembl
Innerchr17:58014624..58017975hg19UCSC Ensembl
Outerchr17:58013496..58018614hg19UCSC Ensembl
Innerchr17:55369406..55372757hg18UCSC Ensembl
Outerchr17:55368278..55373396hg18UCSC Ensembl
Innerchr17:55369406..55372757hg17UCSC Ensembl
Outerchr17:55368278..55373396hg17UCSC Ensembl
Cytoband17q23.1
Allele length
AssemblyAllele length
hg385119
hg195119
hg185119
hg175119
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9576
Supporting Variants
SamplesNA18860
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)nssv27473
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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