A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17849



Internal ID15496296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12412390..12419668hg38UCSC Ensembl
Outerchr8:12412064..12420024hg38UCSC Ensembl
Innerchr8:12269899..12277177hg19UCSC Ensembl
Outerchr8:12269573..12277533hg19UCSC Ensembl
Innerchr8:12314270..12321548hg18UCSC Ensembl
Outerchr8:12313944..12321904hg18UCSC Ensembl
Innerchr8:12314270..12321548hg17UCSC Ensembl
Outerchr8:12313944..12321904hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg387961
hg197961
hg187961
hg177961
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8288
Supporting Variants
SamplesNA19173
Known GenesFAM90A25P
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)nssv17849
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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