A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8777



Internal ID15846689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:4138723..4366038hg38UCSC Ensembl
Outerchr11:4159953..4387268hg19UCSC Ensembl
Outerchr11:4116529..4343844hg18UCSC Ensembl
Outerchr11:4116529..4343844hg17UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg38227316
hg19227316
hg18227316
hg17227316
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv19803, nssv20558, nssv20259, nssv21883, nssv20728, nssv19406, nssv22242, nssv22484, nssv20788, nssv21913, nssv19376, nssv20199, nssv19773, nssv21961, nssv22731, nssv20229
SamplesNA18502, NA18504, NA12155, NA07048, NA19007, NA18517, NA19240, NA19144, NA12740, NA18972
Known GenesLOC100506082, RRM1
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)nsv8777
Frequency
Sample Size31
Observed Gain9
Observed Loss1
Observed Complex0
Frequencyn/a


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