A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8450



Internal ID15499676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:39062336..39417725hg38UCSC Ensembl
Outerchr9:39062333..39417722hg19UCSC Ensembl
Outerchr9:39052333..39407722hg18UCSC Ensembl
Outerchr9:39052333..39407722hg17UCSC Ensembl
Cytoband9p13.1
Allele length
AssemblyAllele length
hg38355390
hg19355390
hg18355390
hg17355390
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18418, nssv18033, nssv20241, nssv17117, nssv18388, nssv21990, nssv19812, nssv21960, nssv20277, nssv17857, nssv20603, nssv19842, nssv18048, nssv18638
SamplesNA18502, NA11830, NA12155, NA18563, NA18860, NA07048, NA19221, NA19132, NA18564, NA19144, NA18972
Known GenesCNTNAP3, SPATA31A1, SPATA31A2
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)nsv8450
Frequency
Sample Size31
Observed Gain4
Observed Loss8
Observed Complex0
Frequencyn/a


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