A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv21367



Internal ID15829949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:11354390..11391468hg38UCSC Ensembl
Outerchr12:11353306..11392414hg38UCSC Ensembl
Innerchr12:11507324..11544402hg19UCSC Ensembl
Outerchr12:11506240..11545348hg19UCSC Ensembl
Innerchr12:11398591..11435669hg18UCSC Ensembl
Outerchr12:11397507..11436615hg18UCSC Ensembl
Innerchr12:11398591..11435669hg17UCSC Ensembl
Outerchr12:11397507..11436615hg17UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3839109
hg1939109
hg1839109
hg1739109
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8921
Supporting Variants
SamplesNA11830
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)nssv21367
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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