A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1443692



Internal ID16094296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:67783519..67943911hg38UCSC Ensembl
Outerchr4:68649237..68809629hg19UCSC Ensembl
Outerchr4:68331832..68492224hg18UCSC Ensembl
Outerchr4:68478003..68638395hg17UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38160393
hg19160393
hg18160393
hg17160393
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv829960
Supporting Variants
Samples
Known GenesTMPRSS11A, TMPRSS11D
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)nssv1443692
Frequency
Sample Size95
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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