A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv830183



Internal ID16107366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:349237..502409hg38UCSC Ensembl
Outerchr5:349352..502524hg19UCSC Ensembl
Outerchr5:402352..555524hg18UCSC Ensembl
Outerchr5:402352..555524hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38153173
hg19153173
hg18153173
hg17153173
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1444165, nssv1444166, nssv1444159, nssv1444167, nssv1444163, nssv1444164, nssv1444160, nssv1444161
Samples
Known GenesAHRR, C5orf55, EXOC3, PP7080, SLC9A3
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)nsv830183
Frequency
Sample Size95
Observed Gain1
Observed Loss7
Observed Complex0
Frequencyn/a


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