A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16517



Internal ID15489513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7710885..7879818hg38UCSC Ensembl
Outerchr8:7706040..7880280hg38UCSC Ensembl
Innerchr8:7568407..7737340hg19UCSC Ensembl
Outerchr8:7563562..7737802hg19UCSC Ensembl
Innerchr8:7605817..7774750hg18UCSC Ensembl
Outerchr8:7600972..7775212hg18UCSC Ensembl
Innerchr8:7605817..7774750hg17UCSC Ensembl
Outerchr8:7600972..7775212hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38174241
hg19174241
hg18174241
hg17174241
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8281
Supporting Variants
SamplesNA18563
Known GenesDEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, FAM90A10P, PRR23D1, PRR23D2, SPAG11A, SPAG11B
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)nssv16517
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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