A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16592



Internal ID15480570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7415538..7416242hg38UCSC Ensembl
Outerchr8:7414602..7416794hg38UCSC Ensembl
Innerchr8:7273060..7273764hg19UCSC Ensembl
Outerchr8:7272124..7274316hg19UCSC Ensembl
Innerchr8:7260470..7261174hg18UCSC Ensembl
Outerchr8:7259534..7261726hg18UCSC Ensembl
Innerchr8:7260470..7261174hg17UCSC Ensembl
Outerchr8:7259534..7261726hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg382193
hg192193
hg182193
hg172193
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8281
Supporting Variants
SamplesNA07029
Known GenesDEFB4B
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)nssv16592
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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