A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv23589



Internal ID15495343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:11066202..11068735hg38UCSC Ensembl
Outerchr12:11065918..11069338hg38UCSC Ensembl
Innerchr12:11218801..11221334hg19UCSC Ensembl
Outerchr12:11218517..11221937hg19UCSC Ensembl
Innerchr12:11110068..11112601hg18UCSC Ensembl
Outerchr12:11109784..11113204hg18UCSC Ensembl
Innerchr12:11110068..11112601hg17UCSC Ensembl
Outerchr12:11109784..11113204hg17UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg383421
hg193421
hg183421
hg173421
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8917
Supporting Variants
SamplesNA19132
Known GenesPRH1-PRR4
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)nssv23589
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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