<p>(<b>A</b>) Proportion of deletions (white) and duplications (black) overlapping four mutually exclusive genomic categories; entirely within intergenic regions, entirely within intronic regions, partially overlapping a gene including an exonic region, or completely overlapping at least one gene. (<b>B</b>) Read depth coverage (grey histograms) along a gene (blocks are exons) for one representative individual from each population, showing CNV deletions. Examples include an intronic loss from a small G protein signaling modulator 3 gene (<i>SGSM3</i>) in Atlantic individuals, an exonic partial gene loss of a carbonic anhydrase gene (<i>CA4</i>) in Norwegian individuals, and the complete gene loss of a pogo transposable element with <i>KRAB<...
<p>Bar graphs show the fractions of VISTA enhancer loci (observed numbers, grey bars) and the genome...
<p>(A) <sup>classical</sup>CNVs are identified solely by variation among individuals in the copy num...
<p>BC = breast cancer.</p>a<p>Observed only in cancer cases, or only in controls.</p>b<p>The genomic...
(A) CNVs can overlap entire genes or fractions of genes. CNVs overlapping with exons of a gene (exon...
<p><b>(A)</b> Allele frequency spectrum of bi-allelic CNVs across all 66 individuals, showing most d...
Introns can be extraordinarily large and they account for the majority of the DNA sequence in human ...
Introns can be extraordinarily large and they account for the majority of the DNA sequence in human ...
a<p>Dup = duplication; Del = deletion;</p>b<p>Based on build 36 of the human genome;</p>c<p><a href=...
Introns can be extraordinarily large and they account for the majority of the DNA sequence in human ...
<p>a) Percent of Global CNV load across all populations. A total of 44109 CNVs across the genome sho...
<p>(A) Coverage of all exons in the <i>KCNQ1</i> gene of several samples. (B) Detail coverage of exo...
Copy-number variants (CNVs) form an abundant class of genetic variation with a presumed widespread i...
<p>The histograms show the ratio of average expression levels between individuals with and without t...
Copy number Variants (CNVs), which comprise deletions, insertions and inversions of genomic sequence...
<p>(<b>A</b>) Inherited 820 kb-long deletion on chromosome 16:15369798–16190572 in family T3. A dele...
<p>Bar graphs show the fractions of VISTA enhancer loci (observed numbers, grey bars) and the genome...
<p>(A) <sup>classical</sup>CNVs are identified solely by variation among individuals in the copy num...
<p>BC = breast cancer.</p>a<p>Observed only in cancer cases, or only in controls.</p>b<p>The genomic...
(A) CNVs can overlap entire genes or fractions of genes. CNVs overlapping with exons of a gene (exon...
<p><b>(A)</b> Allele frequency spectrum of bi-allelic CNVs across all 66 individuals, showing most d...
Introns can be extraordinarily large and they account for the majority of the DNA sequence in human ...
Introns can be extraordinarily large and they account for the majority of the DNA sequence in human ...
a<p>Dup = duplication; Del = deletion;</p>b<p>Based on build 36 of the human genome;</p>c<p><a href=...
Introns can be extraordinarily large and they account for the majority of the DNA sequence in human ...
<p>a) Percent of Global CNV load across all populations. A total of 44109 CNVs across the genome sho...
<p>(A) Coverage of all exons in the <i>KCNQ1</i> gene of several samples. (B) Detail coverage of exo...
Copy-number variants (CNVs) form an abundant class of genetic variation with a presumed widespread i...
<p>The histograms show the ratio of average expression levels between individuals with and without t...
Copy number Variants (CNVs), which comprise deletions, insertions and inversions of genomic sequence...
<p>(<b>A</b>) Inherited 820 kb-long deletion on chromosome 16:15369798–16190572 in family T3. A dele...
<p>Bar graphs show the fractions of VISTA enhancer loci (observed numbers, grey bars) and the genome...
<p>(A) <sup>classical</sup>CNVs are identified solely by variation among individuals in the copy num...
<p>BC = breast cancer.</p>a<p>Observed only in cancer cases, or only in controls.</p>b<p>The genomic...