A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16162



Internal ID15492208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12128354..12138501hg38UCSC Ensembl
Outerchr8:12128079..12139109hg38UCSC Ensembl
Innerchr8:11985863..11996010hg19UCSC Ensembl
Outerchr8:11985588..11996618hg19UCSC Ensembl
Innerchr8:12023272..12033419hg18UCSC Ensembl
Outerchr8:12022997..12034027hg18UCSC Ensembl
Innerchr8:12023272..12033419hg17UCSC Ensembl
Outerchr8:12022997..12034027hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3811031
hg1911031
hg1811031
hg1711031
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8288
Supporting Variants
SamplesNA18942
Known GenesFAM66D, LOC392196, USP17L2, USP17L7
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)nssv16162
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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