A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv20480



Internal ID15837398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:11354390..11415385hg38UCSC Ensembl
Outerchr12:11353306..11415789hg38UCSC Ensembl
Innerchr12:11507324..11568319hg19UCSC Ensembl
Outerchr12:11506240..11568723hg19UCSC Ensembl
Innerchr12:11398591..11459586hg18UCSC Ensembl
Outerchr12:11397507..11459990hg18UCSC Ensembl
Innerchr12:11398591..11459586hg17UCSC Ensembl
Outerchr12:11397507..11459990hg17UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3862484
hg1962484
hg1862484
hg1762484
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8921
Supporting Variants
SamplesNA18853
Known GenesPRB1, PRB2
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)nssv20480
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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