A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18987



Internal ID15494957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7323833..7348515hg38UCSC Ensembl
Outerchr8:7323398..7348782hg38UCSC Ensembl
Innerchr8:7181355..7206037hg19UCSC Ensembl
Outerchr8:7180920..7206304hg19UCSC Ensembl
Innerchr8:7168765..7193447hg18UCSC Ensembl
Outerchr8:7168330..7193714hg18UCSC Ensembl
Innerchr8:7168765..7193447hg17UCSC Ensembl
Outerchr8:7168330..7193714hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3825385
hg1925385
hg1825385
hg1725385
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8281
Supporting Variants
SamplesNA19132
Known GenesFAM66B, USP17L1P, USP17L4
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)nssv18987
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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