A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8290



Internal ID15499516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:13234049..13677278hg38UCSC Ensembl
Outerchr8:13091558..13534787hg19UCSC Ensembl
Outerchr8:13135929..13579158hg18UCSC Ensembl
Outerchr8:13135929..13579158hg17UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38443230
hg19443230
hg18443230
hg17443230
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17266, nssv16637
SamplesNA18563, NA18552
Known GenesC8orf48, DLC1
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)nsv8290
Frequency
Sample Size31
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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