A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8918



Internal ID15846830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:11185099..11187272hg38UCSC Ensembl
Outerchr12:11337700..11339877hg19UCSC Ensembl
Outerchr12:11228967..11231144hg18UCSC Ensembl
Outerchr12:11228967..11231144hg17UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg382174
hg192178
hg182178
hg172178
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv21488
SamplesNA12155
Known GenesTAS2R42
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)nsv8918
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer