A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8590



Internal ID15846502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:138141002..138240699hg38UCSC Ensembl
Outerchr9:141035454..141131149hg19UCSC Ensembl
Outerchr9:140155275..140250970hg18UCSC Ensembl
Outerchr9:138311291..138406986hg17UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg3899698
hg1995696
hg1895696
hg1795696
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17726, nssv16865, nssv18145, nssv18260, nssv18230, nssv20712, nssv21524, nssv19448, nssv21537, nssv18959, nssv17664, nssv18969, nssv19007, nssv16699
SamplesNA18502, NA18980, NA12155, NA18563, NA18975, NA19007, NA10847, NA18572, NA18853, NA19132, NA18517, NA12740, NA19173
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)nsv8590
Frequency
Sample Size31
Observed Gain6
Observed Loss8
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer