A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv26011



Internal ID15497411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:57459616..57471597hg38UCSC Ensembl
Outerchr12:57458996..57472098hg38UCSC Ensembl
Innerchr12:57853399..57865380hg19UCSC Ensembl
Outerchr12:57852779..57865881hg19UCSC Ensembl
Innerchr12:56139666..56151647hg18UCSC Ensembl
Outerchr12:56139046..56152148hg18UCSC Ensembl
Innerchr12:56139666..56151647hg17UCSC Ensembl
Outerchr12:56139046..56152148hg17UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg3813103
hg1913103
hg1813103
hg1713103
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8974
Supporting Variants
SamplesNA19221
Known GenesGLI1
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)nssv26011
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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