A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv20712



Internal ID15832500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:138154940..138220610hg38UCSC Ensembl
Outerchr9:138153836..138220926hg38UCSC Ensembl
Innerchr9:141049392..141111060hg19UCSC Ensembl
Outerchr9:141048288..141111376hg19UCSC Ensembl
Innerchr9:140169213..140230881hg18UCSC Ensembl
Outerchr9:140168109..140231197hg18UCSC Ensembl
Innerchr9:138325229..138386897hg17UCSC Ensembl
Outerchr9:138324125..138387213hg17UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg3867091
hg1963089
hg1863089
hg1763089
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8590
Supporting Variants
SamplesNA18502
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)nssv20712
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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