A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv23653



Internal ID15829264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:59937263..59941253hg38UCSC Ensembl
Outerchr17:59936135..59942430hg38UCSC Ensembl
Innerchr17:58014624..58018614hg19UCSC Ensembl
Outerchr17:58013496..58019791hg19UCSC Ensembl
Innerchr17:55369406..55373396hg18UCSC Ensembl
Outerchr17:55368278..55374573hg18UCSC Ensembl
Innerchr17:55369406..55373396hg17UCSC Ensembl
Outerchr17:55368278..55374573hg17UCSC Ensembl
Cytoband17q23.1
Allele length
AssemblyAllele length
hg386296
hg196296
hg186296
hg176296
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9576
Supporting Variants
SamplesNA10863
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)nssv23653
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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