A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17851



Internal ID15497697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7304610..7308261hg38UCSC Ensembl
Outerchr8:7304296..7308473hg38UCSC Ensembl
Innerchr8:7162132..7165783hg19UCSC Ensembl
Outerchr8:7161818..7165995hg19UCSC Ensembl
Innerchr8:7149542..7153193hg18UCSC Ensembl
Outerchr8:7149228..7153405hg18UCSC Ensembl
Innerchr8:7149542..7153193hg17UCSC Ensembl
Outerchr8:7149228..7153405hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg384178
hg194178
hg184178
hg174178
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8281
Supporting Variants
SamplesNA19240
Known GenesFAM66B
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)nssv17851
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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