title: High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications.
abstract: We present a database of copy number variations (CNVs) detected in 2026 disease-free individuals, using high-density, SNP-based oligonucleotide microarrays. This large cohort, comprised mainly of Caucasians (65.2%) and African-Americans (34.2%), was analyzed for CNVs in a single study using a uniform array platform and computational process. We have catalogued and characterized 54,462 individual CNVs, 77.8% of which were identified in multiple unrelated individuals. These nonunique CNVs mapped to 3272 distinct regions of genomic variation spanning 5.9% of the genome; 51.5% of these were previously unreported, and >85% are rare. Our annotation and analysis confirmed and extended previously reported correlations between CNVs and several genomic features such as repetitive DNA elements, segmental duplications, and genes. We demonstrate the utility of this data set in distinguishing CNVs with pathologic significance from normal variants. Together, this analysis and annotation provides a useful resource to assist with the assessment of CNVs in the contexts of human variation, disease susceptibility, and clinical molecular diagnostics.
authors: Division of Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.
authors: Tamim H
authors: TH
authors: Shaikh
authors: Xiaowu
authors: X
authors: Gai
authors: Juan C
authors: JC
authors: Perin
authors: Joseph T
authors: JT
authors: Glessner
authors: Hongbo
authors: H
authors: Xie
authors: Kevin
authors: K
authors: Murphy
authors: Ryan
authors: R
authors: O'Hara
authors: Tracy
authors: T
authors: Casalunovo
authors: Laura K
authors: LK
authors: Conlin
authors: Monica
authors: M
authors: D'Arcy
authors: Edward C
authors: EC
authors: Frackelton
authors: Elizabeth A
authors: EA
authors: Geiger
authors: Chad
authors: C
authors: Haldeman-Englert
authors: Marcin
authors: M
authors: Imielinski
authors: Cecilia E
authors: CE
authors: Kim
authors: Livija
authors: L
authors: Medne
authors: Kiran
authors: K
authors: Annaiah
authors: Jonathan P
authors: JP
authors: Bradfield
authors: Elvira
authors: E
authors: Dabaghyan
authors: Andrew
authors: A
authors: Eckert
authors: Chioma C
authors: CC
authors: Onyiah
authors: Svetlana
authors: S
authors: Ostapenko
authors: F George
authors: FG
authors: Otieno
authors: Erin
authors: E
authors: Santa
authors: Julie L
authors: JL
authors: Shaner
authors: Robert
authors: R
authors: Skraban
authors: Ryan M
authors: RM
authors: Smith
authors: Josephine
authors: J
authors: Elia
authors: Elizabeth
authors: E
authors: Goldmuntz
authors: Nancy B
authors: NB
authors: Spinner
authors: Elaine H
authors: EH
authors: Zackai
authors: Rosetta M
authors: RM
authors: Chiavacci
authors: Robert
authors: R
authors: Grundmeier
authors: Eric F
authors: EF
authors: Rappaport
authors: Struan F A
authors: SF
authors: Grant
authors: Peter S
authors: PS
authors: White
authors: Hakon
authors: H
authors: Hakonarson
mesh_terms: D000328:Adult; D044383:Black People / Q000235:genetics; D002648:Child; D002874:Chromosome Mapping / Q000379:methods*; D030541:Databases, Genetic; D018628:Gene Dosage / Q000235:genetics*; D020440:Gene Duplication; D014644:Genetic Variation; D015894:Genome, Human / Q000235:genetics*; D006801:Humans; D020411:Oligonucleotide Array Sequence Analysis; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D012107:Research Design; D044465:White People / Q000235:genetics; D001741:Black or African American