A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18452



Internal ID15480602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:100461208..100509248hg38UCSC Ensembl
Outerchr10:100453735..100510190hg38UCSC Ensembl
Innerchr10:102220965..102269005hg19UCSC Ensembl
Outerchr10:102213492..102269947hg19UCSC Ensembl
Innerchr10:102210955..102258995hg18UCSC Ensembl
Outerchr10:102203482..102259937hg18UCSC Ensembl
Innerchr10:102210955..102258995hg17UCSC Ensembl
Outerchr10:102203482..102259937hg17UCSC Ensembl
Cytoband10q24.31
Allele length
AssemblyAllele length
hg3856456
hg1956456
hg1856456
hg1756456
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8723
Supporting Variants
SamplesNA07029
Known GenesSEC31B, WNT8B
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)nssv18452
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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