A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16850



Internal ID15490800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:17579500..17587049hg38UCSC Ensembl
Outerchr8:17578325..17589428hg38UCSC Ensembl
Innerchr8:17437009..17444558hg19UCSC Ensembl
Outerchr8:17435834..17446937hg19UCSC Ensembl
Innerchr8:17481273..17488823hg18UCSC Ensembl
Outerchr8:17480098..17491197hg18UCSC Ensembl
Innerchr8:17481273..17488823hg17UCSC Ensembl
Outerchr8:17480098..17491197hg17UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg3811104
hg1911104
hg1811100
hg1711100
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8306
Supporting Variants
SamplesNA18853
Known GenesPDGFRL
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)nssv16850
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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