A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv20306



Internal ID15841264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:11352694..11398424hg38UCSC Ensembl
Outerchr12:11351730..11398896hg38UCSC Ensembl
Innerchr12:11505628..11551358hg19UCSC Ensembl
Outerchr12:11504664..11551830hg19UCSC Ensembl
Innerchr12:11396895..11442625hg18UCSC Ensembl
Outerchr12:11395931..11443097hg18UCSC Ensembl
Innerchr12:11396895..11442625hg17UCSC Ensembl
Outerchr12:11395931..11443097hg17UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3847167
hg1947167
hg1847167
hg1747167
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8921
Supporting Variants
SamplesNA19007
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)nssv20306
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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