A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17549



Internal ID15496377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7379317..7546129hg38UCSC Ensembl
Outerchr8:7378074..7546475hg38UCSC Ensembl
Innerchr8:7236839..7403651hg19UCSC Ensembl
Outerchr8:7235596..7403997hg19UCSC Ensembl
Innerchr8:7224249..7391061hg18UCSC Ensembl
Outerchr8:7223006..7391407hg18UCSC Ensembl
Innerchr8:7224249..7391061hg17UCSC Ensembl
Outerchr8:7223006..7391407hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38168402
hg19168402
hg18168402
hg17168402
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8281
Supporting Variants
SamplesNA19173
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4B, PRR23D1, PRR23D2, 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)nssv17549
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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