A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8922



Internal ID15846834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:12561358..12563533hg38UCSC Ensembl
Outerchr12:12714292..12716467hg19UCSC Ensembl
Outerchr12:12605559..12607734hg18UCSC Ensembl
Outerchr12:12605559..12607734hg17UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg382176
hg192176
hg182176
hg172176
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv20463, nssv23826, nssv20658, nssv19562, nssv22896, nssv21339
SamplesNA07029, NA18504, NA07048, NA18517, NA18564, NA12740
Known GenesDUSP16
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)nsv8922
Frequency
Sample Size31
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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