A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17279



Internal ID15496406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:136612..136612hg38UCSC Ensembl
Outerchr8:136497..137719hg38UCSC Ensembl
Innerchr8:86612..86612hg19UCSC Ensembl
Outerchr8:86497..87719hg19UCSC Ensembl
Innerchr8:76612..76612hg18UCSC Ensembl
Outerchr8:76497..77719hg18UCSC Ensembl
Innerchr8:76612..76612hg17UCSC Ensembl
Outerchr8:76497..77719hg17UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg381223
hg191223
hg181223
hg171223
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8253
Supporting Variants
SamplesNA19173
Known Genes
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)nssv17279
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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