A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv830614



Internal ID16107797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:93000421..93213143hg38UCSC Ensembl
Outerchr1:93465978..93678700hg19UCSC Ensembl
Outerchr1:93238566..93451288hg18UCSC Ensembl
Outerchr1:93177999..93390721hg17UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg38212723
hg19212723
hg18212723
hg17212723
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1447851
Samples
Known GenesCCDC18, MTF2, TMED5
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)nsv830614
Frequency
Sample Size95
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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