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Transcript 
Structural variation in the
human genome
Lars Feuk, Andrew R. Carson and Stephen
W. Scherer Nat. Rev. Gen.
Feb 2006
Tarmo Puurand, 13.02.06
Cytogenetic detection and confirmation of structural
variants.
Methods for detecting structural variants in the human
genome.
Array-based, genome-wide methods for the
identification of copy-number variants.
Multiplex PCR-based methods for the identification of
copy-number variants.
The complexity of segmental duplications and copynumber variants.
Influence of structural variants on phenotype.
Inversions.
Disease
Inversion
Lenght
Frequency
Haemophilia A
Factor VIII
gene
400 kb
Hunter syndrome
IDS gene
Williams-Beuren
syndrome
7q11.23
1,5 Mb
1/3 parents carry, 5%
population
Angelman
syndrome
15q12
4 Mb
½ parents carry, 9%
population
Sotos syndrome
5q35
1,9 Mb
In Japan, most fathers
on these patients carry
The MHC Haplotype Project
.
Sequence Variations between QBL and PGF.
Positional Distributions of Variations between COX and
QBL in the HLA-DR Region.
Materials and methods.
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