A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1448795



Internal ID16099399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:114455501..114627235hg38UCSC Ensembl
Outerchr1:114998123..115169856hg19UCSC Ensembl
Outerchr1:114799646..114971379hg18UCSC Ensembl
Outerchr1:114710165..114881898hg17UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg38171735
hg19171734
hg18171734
hg17171734
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv831104
Supporting Variants
Samples
Known GenesBCAS2, DENND2C, TRIM33
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)nssv1448795
Frequency
Sample Size95
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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