A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18033



Internal ID15481049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:39063787..39417329hg38UCSC Ensembl
Outerchr9:39062336..39417725hg38UCSC Ensembl
Innerchr9:39063784..39417326hg19UCSC Ensembl
Outerchr9:39062333..39417722hg19UCSC Ensembl
Innerchr9:39053784..39407326hg18UCSC Ensembl
Outerchr9:39052333..39407722hg18UCSC Ensembl
Innerchr9:39053784..39407326hg17UCSC Ensembl
Outerchr9:39052333..39407722hg17UCSC Ensembl
Cytoband9p13.1
Allele length
AssemblyAllele length
hg38355390
hg19355390
hg18355390
hg17355390
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8450
Supporting Variants
SamplesNA07048
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)nssv18033
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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