A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8310



Internal ID15499536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:18992632..19008508hg38UCSC Ensembl
Outerchr8:18850142..18866018hg19UCSC Ensembl
Outerchr8:18894422..18910298hg18UCSC Ensembl
Outerchr8:18894422..18910298hg17UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg3815877
hg1915877
hg1815877
hg1715877
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16984, nssv17889, nssv16235, nssv16880, nssv16496, nssv16697, nssv17347, nssv16494, nssv17526, nssv21030, nssv17478, nssv16312, nssv19943
SamplesNA18975, NA10839, NA10847, NA18972, NA10863, NA18563, NA12740, NA18564, NA18942, NA19221, NA11830, NA18853, NA19007
Known GenesPSD3
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)nsv8310
Frequency
Sample Size31
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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