Biochemistry 158/258


Genomics, Bioinformatics & Medicine

Structural Variants in the Human Genome

Doug Brutlag

Presentation Resources

Structural Genomic Variations Slides

Structural Genomic Variation Video

Structural Variation Resources

dbVAR Database at NCBI

Database of Genomics Variants

NHGRI Structural Variation Project

Human Genome Structural Variation Project

Personal Genomics and Genetic Testing



Lecture by Evan Eichler on Human Genome Structural Variation, Disease and Evolution

Recent Literature Reviews on Structural Variants in the Human Genome

Other References on Structural Variants in the Human Genome

Age-Related Somatic Structural Changes in the Nuclear Genome of Human Blood Cells Forsberg et al. (2012) The American Journal of Human Genetics 90, 217–228, February 10, 2012

Charcot-Marie-Tooth Disease and Related Inherited Neuropathies Murakami et al., Medicine 75, 232-250, (1996).

DNA Duplication Associated with Charcot-Marie-Tooth Disease Type 1A. Lupski, et al., 1991 Cell, Vol. 66, 219-232, July 26, 1991,

Redon et al, 2006 - Global variation in copy number in the human genome

Sharp, Cheng & Eichler 2006- Structural Variation of the Human Genome

Mefford & Eichler 2009 - Duplication Hotspots, Rare Genetic Disorders, and common disease.

Genomics, Intellectual Disability, and Autism Mefford et al., 2012 N Engl J Med 2012;366:733-43.

High-Resolution Copy-Number Variation Map Reflects Human Olfactory Receptor Diversity and Evolution. Hassin et al., 2008 PLOS Genetics November 2008 | Volume 4 | Issue 11 | e1000249

A map of human genome variation from population-scale sequencing. 1000 genomes Consortium 2010 NATURE | VOL 467 | 28 OCTOBER 2010

1000 Genome Project 2010 - A map of human genome variation frompopulation-scale sequencing

Lecture only Available to Stanford Students

Henry Stewart Talks

Copy number variation (37 mins) 

Array comparative genomic hybridization to characterize copy number variation in the human genome (17 mins)

CNVs in human genomes (32 mins)

Genomic disorders: mechanisms for copy number variation and clinical implementation of high-resolution genome analysis (64 mins) 

Databases for CNV in control and disease populations (47 mins) 

CNVs and clinical diagnosis (44 mins) 

Williams-Beuren syndrome locus: a model of CNV affecting gene dosage and phenotypes (31 mins) 

Mendelian CNV mutations (33 mins) 

Copy number variation in mental retardation (45 mins) 

Copy number variation in neuropsychiatric disorders (40 mins) 

The future of CNVs: sequence based resolution and links to human disease (56 mins)