A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv832850



Internal ID16110033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:88814253..88871220hg38UCSC Ensembl
Outerchr14:89280597..89337564hg19UCSC Ensembl
Outerchr14:88350350..88407317hg18UCSC Ensembl
Outerchr14:88350350..88407317hg17UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg3856968
hg1956968
hg1856968
hg1756968
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1451090, nssv1451082, nssv1451086, nssv1451089, nssv1451083, nssv1451087, nssv1451092, nssv1451094, nssv1451088, nssv1451085, nssv1451091, nssv1451093
Samples
Known GenesTTC8
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)nsv832850
Frequency
Sample Size95
Observed Gain10
Observed Loss2
Observed Complex0
Frequencyn/a


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