This track shows 285 sites of intermediate-sized structural variation (ISV) detected by mapping paired end-sequences from a human fosmid DNA library against the July 2003 assembly (build34) of the human genome. The average resolution of this technique is ~8 kb, and includes 56 sites of inversion not detectable by array-based approaches. However, because of the physical constraints of fosmid insert size, this technique is unable to detect insertions greater than 40 kb in size.
First Letter = Rearrangement Type D->Deletion I->Insertion V->Inversion Second Letter = Association with repeat or duplication R->Human Specific Repeat D->Duplication N->Neither(Unique) Third Letter = Second Haplotype Support N->Variant Site lacking support from the human genome reference S->Variant Site with support from the human genome reference
E Tuzun, AJ Sharp, JA Bailey, R Kaul, VA Morrison, LM Pertz, E Haugen, H Hayden, D Albertson, D Pinkel, MV Olson, EE Eichler (2005) Fine-scale structural variation of the human genome. Nature Genet