A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17995



Internal ID15494108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:84297888..84404222hg38UCSC Ensembl
Outerchr9:84210708..84459995hg38UCSC Ensembl
Innerchr9:86912803..87019137hg19UCSC Ensembl
Outerchr9:86825623..87074910hg19UCSC Ensembl
Innerchr9:86102623..86208957hg18UCSC Ensembl
Outerchr9:86015443..86264730hg18UCSC Ensembl
Innerchr9:84142357..84248691hg17UCSC Ensembl
Outerchr9:84055177..84304464hg17UCSC Ensembl
Cytoband9q21.32
Allele length
AssemblyAllele length
hg38249288
hg19249288
hg18249288
hg17249288
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8542
Supporting Variants
SamplesNA18980
Known GenesSLC28A3
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)nssv17995
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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