A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8563



Internal ID15499789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:113151996..113154871hg38UCSC Ensembl
Outerchr9:115914276..115917151hg19UCSC Ensembl
Outerchr9:114954097..114956972hg18UCSC Ensembl
Outerchr9:112993830..112996705hg17UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg382876
hg192876
hg182876
hg172876
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18055
SamplesNA18980
Known GenesSLC31A2
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)nsv8563
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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