A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv20716



Internal ID15488799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:70483995..70484349hg38UCSC Ensembl
Outerchr12:70482643..70534965hg38UCSC Ensembl
Innerchr12:70877775..70878129hg19UCSC Ensembl
Outerchr12:70876423..70928745hg19UCSC Ensembl
Innerchr12:69164042..69164396hg18UCSC Ensembl
Outerchr12:69162690..69215012hg18UCSC Ensembl
Innerchr12:69164042..69164396hg17UCSC Ensembl
Outerchr12:69162690..69215012hg17UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg3852323
hg1952323
hg1852323
hg1752323
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8986
Supporting Variants
SamplesNA18552
Known GenesPTPRB
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)nssv20716
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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