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Rare copy number variants (CNVs) have been implicated in neurodevelopmental disorders. The aim of this study was to characterize the relationship between rare CNVs with NPs, anxiety, and depression in a childhood population sample, as well as to examine sex\u2010specific effects. We analyzed a sample of <jats:italic>N<\/jats:italic>\u2009=\u200912,982 children, of whom 5.3% had narrowly defined NPs (clinically diagnosed), 20.9% had broadly defined NPs (based on validated screening measures, but no diagnosis), and 3.0% had clinically diagnosed anxiety or depression. Rare (&lt;1% frequency) CNVs were categorized by size (100\u2013500\u2009kb or\u2009&gt;\u2009500\u2009kb), type, and putative relevance to NPs. We tested for association of CNV categories with outcomes and examined sex\u2010specific effects. Medium deletions (OR[CI]\u2009=\u20091.18[1.05\u20131.33], <jats:italic>p<\/jats:italic>\u2009=\u2009.0053) and large duplications (OR[CI]\u2009=\u20091.45[1.19\u20131.75], <jats:italic>p<\/jats:italic>\u2009=\u2009.00017) were associated with broadly defined NPs. Large deletions (OR[CI]\u2009=\u20091.85[1.14\u20133.01], <jats:italic>p<\/jats:italic>\u2009=\u2009.013) were associated with narrowly defined NPs. There were no significant sex differences in CNV burden in individuals with NPs. Although CNVs were not associated with anxiety\/depression in the whole sample, in individuals diagnosed with these disorders, females were more likely to have large CNVs (OR[CI]\u2009=\u20093.75[1.45\u20139.68], <jats:italic>p<\/jats:italic>\u2009=\u2009.0064). Rare CNVs are associated with both narrowly and broadly defined NPs in a general population sample of children. Our results also suggest that large, rare CNVs may show sex\u2010specific phenotypic effects.<\/jats:p>","DOI":"10.1002\/ajmg.b.32685","type":"journal-article","created":{"date-parts":[[2018,10,11]],"date-time":"2018-10-11T13:59:49Z","timestamp":1539266389000},"page":"341-350","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":34,"title":["Copy number variation and neuropsychiatric problems in females and males in the general population"],"prefix":"10.1002","volume":"180","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8911-3479","authenticated-orcid":false,"given":"Joanna","family":"Martin","sequence":"first","affiliation":[{"name":"Department of Medical Epidemiology &amp; Biostatistics Karolinska Institutet  Stockholm Sweden"},{"name":"MRC Centre for Neuropsychiatric Genetics and Genomics Cardiff University  Cardiff United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristiina","family":"Tammimies","sequence":"additional","affiliation":[{"name":"Center of Neurodevelopmental Disorders at Karolinska Institutet (KIND), Department of Women's and Children's Health Karolinska Institutet and Center for Psychiatry Research  Stockholm Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert","family":"Karlsson","sequence":"additional","affiliation":[{"name":"Department of Medical Epidemiology &amp; Biostatistics Karolinska Institutet  Stockholm Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yi","family":"Lu","sequence":"additional","affiliation":[{"name":"Department of Medical Epidemiology &amp; Biostatistics Karolinska Institutet  Stockholm Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Henrik","family":"Larsson","sequence":"additional","affiliation":[{"name":"Department of Medical Epidemiology &amp; Biostatistics Karolinska Institutet  Stockholm Sweden"},{"name":"School of Medical Sciences \u00d6rebro University  \u00d6rebro Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul","family":"Lichtenstein","sequence":"additional","affiliation":[{"name":"Department of Medical Epidemiology &amp; Biostatistics Karolinska Institutet  Stockholm Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrik K. 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