A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16547



Internal ID15489567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7882549..7957262hg38UCSC Ensembl
Outerchr8:7882149..7957429hg38UCSC Ensembl
Innerchr8:7740071..7814784hg19UCSC Ensembl
Outerchr8:7739671..7814951hg19UCSC Ensembl
Innerchr8:7777481..7852194hg18UCSC Ensembl
Outerchr8:7777081..7852361hg18UCSC Ensembl
Innerchr8:7777481..7852194hg17UCSC Ensembl
Outerchr8:7777081..7852361hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3875281
hg1975281
hg1875281
hg1775281
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8281
Supporting Variants
SamplesNA18563
Known GenesDEFB103A, DEFB103B, DEFB4A, FAM66E, ZNF705B
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)nssv16547
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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