A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16175



Internal ID15482306
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12475992..12481189hg38UCSC Ensembl
Outerchr8:12475689..12481209hg38UCSC Ensembl
Innerchr8:12333501..12338698hg19UCSC Ensembl
Outerchr8:12333198..12338718hg19UCSC Ensembl
Innerchr8:12377872..12383069hg18UCSC Ensembl
Outerchr8:12377569..12383089hg18UCSC Ensembl
Innerchr8:12377872..12383069hg17UCSC Ensembl
Outerchr8:12377569..12383089hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg385521
hg195521
hg185521
hg175521
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8288
Supporting Variants
SamplesNA10847
Known GenesLOC100506990
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)nssv16175
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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