A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8916



Internal ID15846828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:11009459..11012495hg38UCSC Ensembl
Outerchr12:11162058..11165094hg19UCSC Ensembl
Outerchr12:11053325..11056361hg18UCSC Ensembl
Outerchr12:11053325..11056361hg17UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg383037
hg193037
hg183037
hg173037
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv21129
SamplesNA12740
Known GenesPRH1-PRR4
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)nsv8916
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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