A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8723



Internal ID15499949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:100453735..100510190hg38UCSC Ensembl
Outerchr10:102213492..102269947hg19UCSC Ensembl
Outerchr10:102203482..102259937hg18UCSC 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 StatusM
Merged Variants
Supporting Variantsnssv18452
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)nsv8723
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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