A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv23350



Internal ID15487806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:3282170..3282805hg38UCSC Ensembl
Outerchr12:3281064..3284070hg38UCSC Ensembl
Innerchr12:3391336..3391971hg19UCSC Ensembl
Outerchr12:3390230..3393236hg19UCSC Ensembl
Innerchr12:3261597..3262232hg18UCSC Ensembl
Outerchr12:3260491..3263497hg18UCSC Ensembl
Innerchr12:3261597..3262232hg17UCSC Ensembl
Outerchr12:3260491..3263497hg17UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg383007
hg193007
hg183007
hg173007
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8892
Supporting Variants
SamplesNA18517
Known GenesTSPAN9
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)nssv23350
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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