A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18969



Internal ID15831233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:138151340..138216000hg38UCSC Ensembl
Outerchr9:138150322..138216410hg38UCSC Ensembl
Innerchr9:141045792..141106450hg19UCSC Ensembl
Outerchr9:141044774..141106860hg19UCSC Ensembl
Innerchr9:140165613..140226271hg18UCSC Ensembl
Outerchr9:140164595..140226681hg18UCSC Ensembl
Innerchr9:138321629..138382287hg17UCSC Ensembl
Outerchr9:138320611..138382697hg17UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg3866089
hg1962087
hg1862087
hg1762087
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8590
Supporting Variants
SamplesNA12740
Known GenesFAM157B, TUBBP5
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)nssv18969
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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