| PubMed ID |
|
26929209 |
Publish Date |
|
2016 Apr |
| Journal |
|
Hum Mutat |
Species |
|
Homo sapiens |
| Disease Type |
|
Congenital abnormality |
Technology |
|
Next Generation Sequencing |
| Case Number |
|
1 |
Raw Data |
|
|
| Title |
|
Germline Chromothripsis Driven by L1-Mediated Retrotransposition and Alu/Alu Homologous Recombination |
| Authors |
|
Nazaryan-Petersen L, Bertelsen B, Bak M, Jonson L, Tommerup N, Hancks DC, Tumer Z |
| Affiliation |
|
Applied Human Molecular Genetics, Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Glostrup, 2600, Denmark |
| Chromothripsis Definition |
|
Close-by breakpoints: >6
Copy number states: 2
Fragments random joining: Yes |
| Download |
|
Study Data File |
| |
| Chromothripsis Cases |
| 26929209_1 |
| |
|
|
| |
Case ID: |
26929209_1 |
| |
Chromosome: | 3,5 |
| |
Disease type: |
Congenital abnormality |
| |
Technology: |
Next Generation Sequencing |
| |
Platform: |
Illumina HiSeq 2500 |
| |
|
