A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1444737



Internal ID16442027
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:72328029..72491863hg38UCSC Ensembl
Outerchr5:71623856..71787690hg19UCSC Ensembl
Outerchr5:71659612..71823446hg18UCSC Ensembl
Outerchr5:71659612..71823446hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38163835
hg19163835
hg18163835
hg17163835
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv830342
Supporting Variants
Samples
Known GenesPTCD2, ZNF366
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)nssv1444737
Frequency
Sample Size95
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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