A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10271



Internal ID15845234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:50852758..50876083hg38UCSC Ensembl
Outerchr3:50890189..50913514hg19UCSC Ensembl
Outerchr3:50865193..50888532hg18UCSC Ensembl
Outerchr3:50865193..50888532hg17UCSC Ensembl
Cytoband3p21.2
Allele length
AssemblyAllele length
hg3823326
hg1923326
hg1823340
hg1723340
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv28883, nssv29130, nssv28852, nssv28140, nssv11568, nssv28849, nssv29181, nssv12713, nssv29024
SamplesNA18980, NA18563, NA12802, NA18942, NA07048, NA18975, NA19007, NA18564, NA18972
Known GenesDOCK3
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)nsv10271
Frequency
Sample Size31
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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