A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17163



Internal ID15481091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7430365..7431270hg38UCSC Ensembl
Outerchr8:7429442..7431955hg38UCSC Ensembl
Innerchr8:7287887..7288792hg19UCSC Ensembl
Outerchr8:7286964..7289477hg19UCSC Ensembl
Innerchr8:7275297..7276202hg18UCSC Ensembl
Outerchr8:7274374..7276887hg18UCSC Ensembl
Innerchr8:7275297..7276202hg17UCSC Ensembl
Outerchr8:7274374..7276887hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg382514
hg192514
hg182514
hg172514
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8281
Supporting Variants
SamplesNA07048
Known GenesDEFB103A, DEFB103B
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)nssv17163
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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