A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17056



Internal ID15488542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12093369..12127218hg38UCSC Ensembl
Outerchr8:12087314..12127472hg38UCSC Ensembl
Innerchr8:11950878..11984727hg19UCSC Ensembl
Outerchr8:11944823..11984981hg19UCSC Ensembl
Innerchr8:11988287..12022136hg18UCSC Ensembl
Outerchr8:11982232..12022390hg18UCSC Ensembl
Innerchr8:11988287..12022136hg17UCSC Ensembl
Outerchr8:11982232..12022390hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3840159
hg1940159
hg1840159
hg1740159
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8288
Supporting Variants
SamplesNA18552
Known GenesFAM66D, ZNF705D
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)nssv17056
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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