A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8519



Internal ID15499745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:68356108..68357631hg38UCSC Ensembl
Outerchr9:70971024..70972547hg19UCSC Ensembl
Outerchr9:70160844..70162367hg18UCSC Ensembl
Outerchr9:68200578..68202101hg17UCSC Ensembl
Cytoband9q13
Allele length
AssemblyAllele length
hg381524
hg191524
hg181524
hg171524
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv20443, nssv18288, nssv17372, nssv21284, nssv18819, nssv17546
SamplesNA07029, NA18504, NA19007, NA18517, NA18564, NA12740
Known GenesPGM5, PGM5-AS1
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)nsv8519
Frequency
Sample Size31
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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