| Accession | HsInv0717 | Region of the inversion | chr8:6909899-12617968 |
| Status | Predicted | Prediction type | Simple |
| Estimated Inversion Size | 4,695,488 bp | Supporting predictions | 2 |
| Inverted allele frequency | ND | Mechanism of origin | ND |
| Functional effect | Intergenic breakpoints | Breakpoint 1 | chr8:6909899-8134378 |
| Ancestral orientation | NA | Breakpoint 2 | chr8:11817284-12617968 |
|
|
 |
|
|
Human Polymorphic Inversion DataBase
|
General information
- Region map
+ Predictions
| Description | Analysis of two inversions involving olfactory receptor-gene clusters that mediate a recurrent translocation | ||||||||||
| Method | Fluorescence in situ hybridization (FISH) | ||||||||||
| Name | |||
| Breakpoint 1 | chr8:6909899-8134378 | Breakpoint 2 | chr8:11817284-12617968 |
| Individuals | |||
- Martinez-Fundichely et al. 2014 (in preparation)
| Description | Accurate prediction of inversions in the human genome from Kidd et al. 2008 fosmid paired-end mapping data using the GRIAL algorithm, and validation of some predictions by sequence analysis and PCR | ||||||||||||||||||||||||||||||||||||||||||
| Method | Paired-end mapping (PEM) | ||||||||||||||||||||||||||||||||||||||||||
| Name | |||||||||||||||||||||||
| Breakpoint 1 | chr8:7180776-7207843 | Breakpoint 2 | chr8:11993631-12021615 | ||||||||||||||||||||
| D/C Score | -2.22 | Disc. Support Prob. | 0 | ||||||||||||||||||||
| Support | 5 probes  | ||||||||||||||||||||||
| Individuals |
| ||||||||||||||||||||||
| Comments | Below the threshold of the Discordant/Concordant (D/C) ratio score. Below the threshold of the Discordant Support (DS) probability | ||||||||||||||||||||||
+ Validation and genotyping
No validations are found
+ Frequency
No frequency studied
+ Breakpoints
| Breakpoint 1 | chr8:6909899-8134378 | Breakpoint 2 | chr8:11817284-12617968 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Description | Breakpoints not refined due to lack of overlap of predictions in at least one breakpoint | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Definition method | Default informatic definition | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mechanism of origin |
ND
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Flexibility | 5.84 | GC content | 0.14 | Stability | 0.85 |
| Position SD1 | Size (bp) | Position SD2 | Size (bp) | Identity | Relative orientation |
| chr8:6909898-6919457 | 9,560 | chr8:12608621-12617968 | 9,348 | 0.911 | Inverted |
| chr8:6920792-6927080 | 6,289 | chr8:11817283-11822580 | 5,298 | 0.914 | Inverted |
| chr8:6920792-6943606 | 22,815 | chr8:11903577-11927642 | 24,066 | 0.936 | Inverted |
| chr8:6920792-6941301 | 20,510 | chr8:12564013-12585125 | 21,113 | 0.937 | Inverted |
| chr8:6920795-6926884 | 6,090 | chr8:12600734-12604027 | 3,294 | 0.906 | Inverted |
| chr8:6933975-6991245 | 57,271 | chr8:12448564-12506204 | 57,641 | 0.943 | Inverted |
| chr8:6933975-6986986 | 53,012 | chr8:12511916-12564180 | 52,265 | 0.953 | Inverted |
| chr8:6938243-6941301 | 3,059 | chr8:12506037-12509055 | 3,019 | 0.926 | Inverted |
| chr8:7017203-7092505 | 75,303 | chr8:12511876-12586975 | 75,100 | 0.953 | Direct |
| chr8:7060343-7069815 | 9,473 | chr8:11903577-11912976 | 9,400 | 0.945 | Direct |
| chr8:7069648-7092505 | 22,858 | chr8:11905763-11929490 | 23,728 | 0.942 | Direct |
| chr8:7084385-7092505 | 8,121 | chr8:11817283-11824441 | 7,159 | 0.920 | Direct |
| chr8:7084582-7092425 | 7,844 | chr8:12600741-12605803 | 5,063 | 0.905 | Direct |
| chr8:7107719-7115441 | 7,723 | chr8:12313965-12321694 | 7,730 | 0.957 | Inverted |
| chr8:7107720-7115441 | 7,722 | chr8:12064684-12072412 | 7,729 | 0.956 | Inverted |
| chr8:7122963-7130685 | 7,723 | chr8:12313965-12321694 | 7,730 | 0.956 | Inverted |
| chr8:7138207-7183224 | 45,018 | chr8:12276250-12321694 | 45,445 | 0.956 | Inverted |
| chr8:7138208-7225869 | 87,662 | chr8:11986627-12072412 | 85,786 | 0.970 | Inverted |
| chr8:7200012-7225869 | 25,858 | chr8:12239836-12264172 | 24,337 | 0.968 | Inverted |
| chr8:7398634-7406387 | 7,754 | chr8:12313965-12321697 | 7,733 | 0.955 | Direct |
| chr8:7398634-7406383 | 7,750 | chr8:12064684-12072412 | 7,729 | 0.954 | Direct |
| chr8:7413930-7421683 | 7,754 | chr8:12313965-12321697 | 7,733 | 0.956 | Direct |
| chr8:7413930-7421679 | 7,750 | chr8:12064684-12072412 | 7,729 | 0.955 | Direct |
| chr8:7436933-7462059 | 25,127 | chr8:12561701-12586975 | 25,275 | 0.951 | Inverted |
| chr8:7436933-7445048 | 8,116 | chr8:11817283-11824441 | 7,159 | 0.921 | Inverted |
| chr8:7436933-7459748 | 22,816 | chr8:11905763-11929490 | 23,728 | 0.943 | Inverted |
| chr8:7453916-7462059 | 8,144 | chr8:12503726-12511876 | 8,151 | 0.995 | Inverted |
| chr8:7456738-7459748 | 3,011 | chr8:12499047-12502065 | 3,019 | 0.960 | Inverted |
| chr8:7456738-7459748 | 3,011 | chr8:12556963-12560029 | 3,067 | 0.926 | Inverted |
| chr8:7459581-7462059 | 2,479 | chr8:11910439-11912976 | 2,538 | 0.942 | Inverted |
| chr8:7562060-7601050 | 38,991 | chr8:12548112-12586975 | 38,864 | 0.946 | Direct |
| chr8:7562060-7584062 | 22,003 | chr8:12489944-12511876 | 21,933 | 0.978 | Direct |
| chr8:7568939-7578411 | 9,473 | chr8:11903577-11912976 | 9,400 | 0.945 | Direct |
| chr8:7578244-7601050 | 22,807 | chr8:11905763-11929490 | 23,728 | 0.942 | Direct |
| chr8:7592929-7601050 | 8,122 | chr8:11817283-11824441 | 7,159 | 0.919 | Direct |
| chr8:7608636-7616382 | 7,747 | chr8:12313965-12321694 | 7,730 | 0.957 | Inverted |
| chr8:7608637-7616382 | 7,746 | chr8:12064684-12072412 | 7,729 | 0.956 | Inverted |
| chr8:7623927-7631678 | 7,752 | chr8:12313965-12321697 | 7,733 | 0.955 | Inverted |
| chr8:7623931-7631678 | 7,748 | chr8:12064684-12072412 | 7,729 | 0.955 | Inverted |
| chr8:7646870-7654621 | 7,752 | chr8:12313965-12321697 | 7,733 | 0.955 | Inverted |
| chr8:7646874-7654621 | 7,748 | chr8:12064684-12072412 | 7,729 | 0.955 | Inverted |
| chr8:7825885-7870364 | 44,480 | chr8:12239836-12284637 | 44,802 | 0.979 | Direct |
| chr8:7825885-7912022 | 86,138 | chr8:11986627-12072412 | 85,786 | 0.971 | Direct |
| chr8:7919569-7927319 | 7,751 | chr8:12313965-12321697 | 7,733 | 0.955 | Direct |
| chr8:7934925-7943045 | 8,121 | chr8:11817283-11824441 | 7,159 | 0.920 | Inverted |
| chr8:7934925-7957749 | 22,825 | chr8:11905763-11929490 | 23,728 | 0.944 | Inverted |
| chr8:7934925-8010143 | 75,219 | chr8:12511876-12586975 | 75,100 | 0.954 | Inverted |
| chr8:7951904-7999988 | 48,085 | chr8:12463900-12511876 | 47,977 | 0.972 | Inverted |
| chr8:7957582-7967066 | 9,485 | chr8:11903577-11912976 | 9,400 | 0.948 | Inverted |
| chr8:8001217-8134378 | 133,162 | chr8:12321710-12461735 | 140,026 | 0.979 | Inverted |
| chr8:8113145-8134378 | 21,234 | chr8:12072429-12099344 | 26,916 | 0.955 | Inverted |
+ Evolutionary history
| Ancestral allele | NA | Age | ND |
| Derived allele | NA | Origin | ND |
+ Orientation in other species
Not defined
+ Age
Not defined
+ Origin
Not defined
+ Functional effects
No genes disrupted by the inversion breakpoints
+ Inversion phenotypical effects
Not defined
+ Report history
- 2015-02-23 10:14:56
| Breakpoint 1 | chr8:7180776-7207843 | Breakpoint 2 | chr8:11993631-12021615 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
- 2015-02-23 10:14:56
| Breakpoint 1 | chr8:6909899-8134378 | Breakpoint 2 | chr8:11817284-12617968 |
| Assembly | hg18 | ||
| Description | Breakpoints not refined due to lack of overlap of predictions in at least one breakpoint | ||
| Definition method | Default informatic definition | ||
