A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16885



Internal ID15493832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12141060..12142190hg38UCSC Ensembl
Outerchr8:12140681..12142269hg38UCSC Ensembl
Innerchr8:11998569..11999699hg19UCSC Ensembl
Outerchr8:11998190..11999778hg19UCSC Ensembl
Innerchr8:12035978..12037108hg18UCSC Ensembl
Outerchr8:12035599..12037187hg18UCSC Ensembl
Innerchr8:12035978..12037108hg17UCSC Ensembl
Outerchr8:12035599..12037187hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg381589
hg191589
hg181589
hg171589
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8288
Supporting Variants
SamplesNA18980
Known GenesFAM66D
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)nssv16885
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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