A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv23477



Internal ID15494883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:6536680..6537516hg38UCSC Ensembl
Outerchr12:6536085..6538081hg38UCSC Ensembl
Innerchr12:6645846..6646682hg19UCSC Ensembl
Outerchr12:6645251..6647247hg19UCSC Ensembl
Innerchr12:6516107..6516943hg18UCSC Ensembl
Outerchr12:6515512..6517508hg18UCSC Ensembl
Innerchr12:6516107..6516943hg17UCSC Ensembl
Outerchr12:6515512..6517508hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg381997
hg191997
hg181997
hg171997
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8896
Supporting Variants
SamplesNA19132
Known GenesGAPDH
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)nssv23477
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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