A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv26051



Internal ID15497326
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:70480365..70484349hg38UCSC Ensembl
Outerchr12:70458602..70534965hg38UCSC Ensembl
Innerchr12:70874145..70878129hg19UCSC Ensembl
Outerchr12:70852382..70928745hg19UCSC Ensembl
Innerchr12:69160412..69164396hg18UCSC Ensembl
Outerchr12:69138649..69215012hg18UCSC Ensembl
Innerchr12:69160412..69164396hg17UCSC Ensembl
Outerchr12:69138649..69215012hg17UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg3876364
hg1976364
hg1876364
hg1776364
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8986
Supporting Variants
SamplesNA19221
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)nssv26051
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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