A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469551



Internal ID15534266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:609831..811284hg38UCSC Ensembl
Innerchr5:609946..811399hg19UCSC Ensembl
Innerchr5:662946..864399hg18UCSC Ensembl
Innerchr5:662684..864137hg16UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38201454
hg19201454
hg18201454
hg16201454
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7n29
Supporting Variantsnssv1675669, nssv1672252, nssv1673957, nssv1675833, nssv1675849, nssv1674129, nssv1674640, nssv1672319, nssv1673686, nssv1674482, nssv1675878, nssv1672901, nssv1676485, nssv1673650, nssv1674343, nssv1673805, nssv1673935, nssv1675520, nssv1673306, nssv1674487, nssv1674144, nssv1673893, nssv1672832, nssv1674349, nssv1674909, nssv1674649, nssv1675450, nssv1675608, nssv1672251, nssv1675658, nssv1675574, nssv1674355, nssv1674667, nssv1676400, nssv1676054, nssv1673079, nssv1674430, nssv1674420, nssv1674334, nssv1674713, nssv1674557, nssv1674122, nssv1674065, nssv1674833, nssv1674130, nssv1674905, nssv1675514, nssv1675342, nssv1675041, nssv1674003, nssv1673014, nssv1676261, nssv1674998, nssv1674073, nssv1672834, nssv1673271, nssv1672377, nssv1676601, nssv1672992, nssv1673074, nssv1673331, nssv1676233, nssv1674214, nssv1675950, nssv1674886, nssv1675800, nssv1674782, nssv1673060, nssv1674854, nssv1674512, nssv1674777, nssv1672530, nssv1676011, nssv1674874, nssv1672958, nssv1673865, nssv1673887, nssv1672822, nssv1674868, nssv1674467, nssv1674785, nssv1672881, nssv1673749, nssv1674002, nssv1675597, nssv1673969
Samples
Known GenesCEP72, LOC100996325, TPPP, ZDHHC11
MethodBAC aCGH
AnalysisA locus was considered a CNV if the log ratio of fluorescence measurements for the individuals assayed exceeded twice the SD of the autosomal clones in both dye-swapped experiments.
PlatformGPL4010
Comments
ReferenceLocke_et_al_2006
Pubmed ID16826518
Accession Number(s)nsv469551
Frequency
Sample Size265
Observed Gain86
Observed Loss0
Observed Complex0
Frequencyn/a


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