A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17266



Internal ID15488555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:13610857..13675653hg38UCSC Ensembl
Outerchr8:13485577..13677278hg38UCSC Ensembl
Innerchr8:13468366..13533162hg19UCSC Ensembl
Outerchr8:13343086..13534787hg19UCSC Ensembl
Innerchr8:13512737..13577533hg18UCSC Ensembl
Outerchr8:13387457..13579158hg18UCSC Ensembl
Innerchr8:13512737..13577533hg17UCSC Ensembl
Outerchr8:13387457..13579158hg17UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38191702
hg19191702
hg18191702
hg17191702
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8290
Supporting Variants
SamplesNA18552
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)nssv17266
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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