A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv20131



Internal ID15844633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:62134392..62140193hg38UCSC Ensembl
Outerchr9:62134078..62140851hg38UCSC Ensembl
Innerchr9:67516297..67521758hg19UCSC Ensembl
Outerchr9:67516297..67522072hg19UCSC Ensembl
Innerchr9:67106117..67111578hg18UCSC Ensembl
Outerchr9:67106117..67111892hg18UCSC Ensembl
Innerchr9:66006111..66011904hg17UCSC Ensembl
Outerchr9:66005453..66012218hg17UCSC Ensembl
Cytoband9q12
Allele length
AssemblyAllele length
hg386774
hg195776
hg185776
hg176766
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8499
Supporting Variants
SamplesNA19240
Known Genes
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)nssv20131
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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