A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17496



Internal ID15482567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:14773644..15803071hg38UCSC Ensembl
Outerchr8:14772387..15806223hg38UCSC Ensembl
Innerchr8:14631153..15660580hg19UCSC Ensembl
Outerchr8:14629896..15663732hg19UCSC Ensembl
Innerchr8:14675524..15704951hg18UCSC Ensembl
Outerchr8:14674267..15708103hg18UCSC Ensembl
Innerchr8:14675524..15704951hg17UCSC Ensembl
Outerchr8:14674267..15708103hg17UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg381033837
hg191033837
hg181033837
hg171033837
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8298
Supporting Variants
SamplesNA10863
Known GenesMIR383, SGCZ, TUSC3
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)nssv17496
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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