A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv832518



Internal ID9423369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:114309533..114497775hg38UCSC Ensembl
Outerchr12:114747338..114935580hg19UCSC Ensembl
Outerchr12:113231721..113419963hg18UCSC Ensembl
Outerchr12:113210058..113398300hg17UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg38188243
hg19188243
hg18188243
hg17188243
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1450010, nssv1450011
Samples
Known GenesTBX5, TBX5-AS1
MethodBAC aCGH
AnalysisExperimental SDs (SDautosome) were calculated for each experiment on the basis of the log2 ratios of the 24,392 reliable clones minus the clones removed because of low signal-to-noise ratio (SNR) or high SD of replicate clone measures (SDclone). Thresholds for determining CNV clones were set at a multiple of the SDautosome value. For each experiment, clones were annotated as uninformative if they were filtered via SNR or SDclone, as a CNV loss if the log2 ratio was less than the negative threshold, as unchanged if the log2 ratio was between the negative and positive thresholds, and as a CNV gain if the log2 ratio was above the positive threshold.
PlatformGPL2616
Comments
ReferenceWong_et_al_2007
Pubmed ID17160897
Accession Number(s)nsv832518
Frequency
Sample Size95
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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