A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18230



Internal ID15837408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:138141483..138225510hg38UCSC Ensembl
Outerchr9:138141002..138230900hg38UCSC Ensembl
Innerchr9:141035935..141115960hg19UCSC Ensembl
Outerchr9:141035454..141121350hg19UCSC Ensembl
Innerchr9:140155756..140235781hg18UCSC Ensembl
Outerchr9:140155275..140241171hg18UCSC Ensembl
Innerchr9:138311772..138391797hg17UCSC Ensembl
Outerchr9:138311291..138397187hg17UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg3889899
hg1985897
hg1885897
hg1785897
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8590
Supporting Variants
SamplesNA18853
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)nssv18230
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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