A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28041



Internal ID15488671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12791134..12796514hg38UCSC Ensembl
Outerchr1:12790780..12797290hg38UCSC Ensembl
Innerchr1:12851283..12856663hg19UCSC Ensembl
Outerchr1:12850929..12857439hg19UCSC Ensembl
Innerchr1:12773870..12779250hg18UCSC Ensembl
Outerchr1:12773516..12780026hg18UCSC Ensembl
Innerchr1:12785549..12790929hg17UCSC Ensembl
Outerchr1:12785195..12791705hg17UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg386511
hg196511
hg186511
hg176511
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8768
Supporting Variants
SamplesNA18552
Known GenesPRAMEF1
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)nssv28041
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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