A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv19257



Internal ID15495529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12374028..12374326hg38UCSC Ensembl
Outerchr8:12373597..12375118hg38UCSC Ensembl
Innerchr8:12231537..12231835hg19UCSC Ensembl
Outerchr8:12231106..12232627hg19UCSC Ensembl
Innerchr8:12275908..12276206hg18UCSC Ensembl
Outerchr8:12275477..12276998hg18UCSC Ensembl
Innerchr8:12275908..12276206hg17UCSC Ensembl
Outerchr8:12275477..12276998hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg381522
hg191522
hg181522
hg171522
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8288
Supporting Variants
SamplesNA19132
Known GenesFAM66A
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)nssv19257
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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