A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16953



Internal ID15481112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:4279475..4280472hg38UCSC Ensembl
Outerchr8:4278912..4281563hg38UCSC Ensembl
Innerchr8:4136997..4137994hg19UCSC Ensembl
Outerchr8:4136434..4139085hg19UCSC Ensembl
Innerchr8:4124405..4125402hg18UCSC Ensembl
Outerchr8:4123842..4126493hg18UCSC Ensembl
Innerchr8:4124405..4125402hg17UCSC Ensembl
Outerchr8:4123842..4126493hg17UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg382652
hg192652
hg182652
hg172652
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8268
Supporting Variants
SamplesNA07048
Known GenesCSMD1
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)nssv16953
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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