A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16687



Internal ID15483634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:95096..126815hg38UCSC Ensembl
Outerchr8:94286..128497hg38UCSC Ensembl
Innerchr8:45096..76815hg19UCSC Ensembl
Outerchr8:44286..78497hg19UCSC Ensembl
Innerchr8:35096..66815hg18UCSC Ensembl
Outerchr8:34286..68497hg18UCSC Ensembl
Innerchr8:35096..66815hg17UCSC Ensembl
Outerchr8:34286..68497hg17UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg3834212
hg1934212
hg1834212
hg1734212
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8253
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)nssv16687
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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