A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv830413



Internal ID16454282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:97114878..97173590hg38UCSC Ensembl
Outerchr5:96450582..96509294hg19UCSC Ensembl
Outerchr5:96476338..96535050hg18UCSC Ensembl
Outerchr5:96476338..96535050hg17UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg3858713
hg1958713
hg1858713
hg1758713
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1444890, nssv1444908, nssv1444898, nssv1444901, nssv1444909, nssv1444902, nssv1444895, nssv1444905, nssv1444903, nssv1444906, nssv1444894, nssv1444887, nssv1444889, nssv1444892, nssv1444910, nssv1444897, nssv1444888, nssv1444911, nssv1444891, nssv1444899, nssv1444900, nssv1444904, nssv1444893
Samples
Known GenesLIX1, RIOK2
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)nsv830413
Frequency
Sample Size95
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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