A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18882



Internal ID15485861
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12651265..12668756hg38UCSC Ensembl
Outerchr8:12650761..12669176hg38UCSC Ensembl
Innerchr8:12508774..12526265hg19UCSC Ensembl
Outerchr8:12508270..12526685hg19UCSC Ensembl
Innerchr8:12553145..12570636hg18UCSC Ensembl
Outerchr8:12552641..12571056hg18UCSC Ensembl
Innerchr8:12553145..12570636hg17UCSC Ensembl
Outerchr8:12552641..12571056hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3818416
hg1918416
hg1818416
hg1718416
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8288
Supporting Variants
SamplesNA18502
Known GenesLOC729732
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)nssv18882
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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