A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv20538



Internal ID15836390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:8194213..8218511hg38UCSC Ensembl
Outerchr12:8189841..8219735hg38UCSC Ensembl
Innerchr12:8346809..8371107hg19UCSC Ensembl
Outerchr12:8342437..8372331hg19UCSC Ensembl
Innerchr12:8238076..8262374hg18UCSC Ensembl
Outerchr12:8233704..8263598hg18UCSC Ensembl
Innerchr12:8238076..8262374hg17UCSC Ensembl
Outerchr12:8233704..8263598hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3829895
hg1929895
hg1829895
hg1729895
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8899
Supporting Variants
SamplesNA18564
Known GenesFAM66C
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)nssv20538
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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