A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv829647



Internal ID16106830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:394162..501463hg38UCSC Ensembl
Outerchr1:317874..425175hg19UCSC Ensembl
Outerchr1:307737..415038hg18UCSC Ensembl
Outerchr1:357737..465038hg17UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg38107302
hg19107302
hg18107302
hg17107302
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1444850, nssv1448183, nssv1441517, nssv1450405, nssv1441629, nssv1443739, nssv1441518, nssv1447072, nssv1445961, nssv1449294, nssv1442628
Samples
Known GenesLOC100132062, LOC100132287, LOC100133331, OR4F16, OR4F29, OR4F3
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)nsv829647
Frequency
Sample Size95
Observed Gain1
Observed Loss10
Observed Complex0
Frequencyn/a


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