A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17559



Internal ID15484335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:4985957..4988693hg38UCSC Ensembl
Outerchr8:4984158..4989559hg38UCSC Ensembl
Innerchr8:4843479..4846215hg19UCSC Ensembl
Outerchr8:4841680..4847081hg19UCSC Ensembl
Innerchr8:4830887..4833623hg18UCSC Ensembl
Outerchr8:4829088..4834489hg18UCSC Ensembl
Innerchr8:4830887..4833623hg17UCSC Ensembl
Outerchr8:4829088..4834489hg17UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg385402
hg195402
hg185402
hg175402
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8268
Supporting Variants
SamplesNA12740
Known GenesCSMD1
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)nssv17559
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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