A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10391



Internal ID15845354
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:196828097..196833536hg38UCSC Ensembl
Outerchr3:196554968..196560407hg19UCSC Ensembl
Outerchr3:198039365..198044804hg18UCSC Ensembl
Outerchr3:198043278..198048717hg17UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg385440
hg195440
hg185440
hg175440
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv11587, nssv11941, nssv12537, nssv11542
SamplesNA11830, NA18942, NA19132, NA19240
Known GenesPAK2
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)nsv10391
Frequency
Sample Size31
Observed Gain2
Observed Loss2
Observed Complex0
Frequencyn/a


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