A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8911



Internal ID15846823
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:9743304..9745095hg38UCSC Ensembl
Outerchr12:9895900..9897691hg19UCSC Ensembl
Outerchr12:9787167..9788958hg18UCSC Ensembl
Outerchr12:9787167..9788958hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg381792
hg191792
hg181792
hg171792
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv23604
SamplesNA18517
Known Genes
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)nsv8911
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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