A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17278



Internal ID15495878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:6018531..6019575hg38UCSC Ensembl
Outerchr8:6018018..6020949hg38UCSC Ensembl
Innerchr8:5876053..5877097hg19UCSC Ensembl
Outerchr8:5875540..5878471hg19UCSC Ensembl
Innerchr8:5863461..5864505hg18UCSC Ensembl
Outerchr8:5862948..5865879hg18UCSC Ensembl
Innerchr8:5863461..5864505hg17UCSC Ensembl
Outerchr8:5862948..5865879hg17UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg382932
hg192932
hg182932
hg172932
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8268
Supporting Variants
SamplesNA19144
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)nssv17278
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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