A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9091



Internal ID15847003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:247979821..247984367hg38UCSC Ensembl
Outerchr1:248143123..248147669hg19UCSC Ensembl
Outerchr1:246209746..246214292hg18UCSC Ensembl
Outerchr1:244469164..244473710hg17UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg384547
hg194547
hg184547
hg174547
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv27746, nssv25967
SamplesNA19132, NA19173
Known GenesOR2L13
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)nsv9091
Frequency
Sample Size31
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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