A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16339



Internal ID15836911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:148631..289421hg38UCSC Ensembl
Outerchr9:148239..290765hg38UCSC Ensembl
Innerchr9:148631..289421hg19UCSC Ensembl
Outerchr9:148239..290765hg19UCSC Ensembl
Innerchr9:138631..279421hg18UCSC Ensembl
Outerchr9:138239..280765hg18UCSC Ensembl
Innerchr9:138631..279421hg17UCSC Ensembl
Outerchr9:138239..280765hg17UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg38142527
hg19142527
hg18142527
hg17142527
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8403
Supporting Variants
SamplesNA18572
Known GenesC9orf66, CBWD1, DOCK8
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)nssv16339
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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