PMC:6218809 / 1381-2198
Annnotations
{"target":"https://pubannotation.org/docs/sourcedb/PMC/sourceid/6218809","sourcedb":"PMC","sourceid":"6218809","source_url":"https://www.ncbi.nlm.nih.gov/pmc/6218809","text":"Structural variation (SV) of genomes, including inversions, deletions, duplications, and more complex rearrangements is seen at polymorphic frequencies across all species. Like single-nucleotide variation, much SV is likely to be evolving neutrally but in some cases there is evidence for balancing or adaptive evolution.1, 2, 3, 4, 5 SV has also been shown to generate novel genes with functional consequences, for example generation of human-specific SRGAP2 genes that increase the density of dendritic spines in the brain.6, 7 Regions that show extensive SV are thought to have a high mutation rate, due to recurrent non-allelic homologous recombination.8, 9, 10, 11 In addition to SV in the germline, large somatic SVs have been observed in human brain,12 in skin fibroblasts,13 and in blood of identical twins.14","tracks":[{"project":"2_test","denotations":[{"id":"30388403-26809315-2049192","span":{"begin":321,"end":322},"obj":"26809315"},{"id":"30388403-25474574-2049193","span":{"begin":324,"end":325},"obj":"25474574"},{"id":"30388403-25848046-2049194","span":{"begin":327,"end":328},"obj":"25848046"},{"id":"30388403-23359205-2049195","span":{"begin":330,"end":331},"obj":"23359205"},{"id":"30388403-28450586-2049196","span":{"begin":333,"end":334},"obj":"28450586"},{"id":"30388403-22559944-2049197","span":{"begin":525,"end":526},"obj":"22559944"},{"id":"30388403-22559943-2049198","span":{"begin":528,"end":529},"obj":"22559943"},{"id":"30388403-25324539-2049199","span":{"begin":657,"end":658},"obj":"25324539"},{"id":"30388403-24603440-2049200","span":{"begin":660,"end":661},"obj":"24603440"},{"id":"30388403-28101908-2049201","span":{"begin":663,"end":665},"obj":"28101908"},{"id":"30388403-28957509-2049202","span":{"begin":667,"end":669},"obj":"28957509"},{"id":"30388403-28450586-2049203","span":{"begin":757,"end":759},"obj":"28450586"},{"id":"30388403-23160490-2049204","span":{"begin":780,"end":782},"obj":"23160490"},{"id":"30388403-18304490-2049205","span":{"begin":815,"end":817},"obj":"18304490"}],"attributes":[{"subj":"30388403-26809315-2049192","pred":"source","obj":"2_test"},{"subj":"30388403-25474574-2049193","pred":"source","obj":"2_test"},{"subj":"30388403-25848046-2049194","pred":"source","obj":"2_test"},{"subj":"30388403-23359205-2049195","pred":"source","obj":"2_test"},{"subj":"30388403-28450586-2049196","pred":"source","obj":"2_test"},{"subj":"30388403-22559944-2049197","pred":"source","obj":"2_test"},{"subj":"30388403-22559943-2049198","pred":"source","obj":"2_test"},{"subj":"30388403-25324539-2049199","pred":"source","obj":"2_test"},{"subj":"30388403-24603440-2049200","pred":"source","obj":"2_test"},{"subj":"30388403-28101908-2049201","pred":"source","obj":"2_test"},{"subj":"30388403-28957509-2049202","pred":"source","obj":"2_test"},{"subj":"30388403-28450586-2049203","pred":"source","obj":"2_test"},{"subj":"30388403-23160490-2049204","pred":"source","obj":"2_test"},{"subj":"30388403-18304490-2049205","pred":"source","obj":"2_test"}]}],"config":{"attribute types":[{"pred":"source","value type":"selection","values":[{"id":"2_test","color":"#db93ec","default":true}]}]}}