A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17437



Internal ID15830271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:20728625..20750400hg38UCSC Ensembl
Outerchr8:20728117..20751179hg38UCSC Ensembl
Innerchr8:20586136..20607911hg19UCSC Ensembl
Outerchr8:20585628..20608690hg19UCSC Ensembl
Innerchr8:20630416..20652191hg18UCSC Ensembl
Outerchr8:20629908..20652970hg18UCSC Ensembl
Innerchr8:20630416..20652191hg17UCSC Ensembl
Outerchr8:20629908..20652970hg17UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg3823063
hg1923063
hg1823063
hg1723063
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8314
Supporting Variants
SamplesNA11830
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)nssv17437
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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