A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9317



Internal ID15500543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:80369..89962hg38UCSC Ensembl
Outerchr16:130368..139960hg19UCSC Ensembl
Outerchr16:70368..79960hg18UCSC Ensembl
Outerchr16:70368..79960hg17UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg389594
hg199593
hg189593
hg179593
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv26524
SamplesNA18860
Known GenesMPG, NPRL3
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)nsv9317
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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