Event ID![]() ![]() |
Disease: Mental Retardation Syndrome ( DOID![]() |
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Event Information |
Precision: A![]() |
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Chromosome Rearrangement Type: Deletion![]() |
Chromosome: 5 |
Karyotype![]() |
Breakpoints Information: |
First Breakpoint![]() |
Location: q12.1 |
Exact position: Chr5: 61017240bp |
This breakpoint occurs in an intergenic region |
Second Breakpoint![]() |
Location: q12.3 |
Exact position: Chr5: 63562888bp |
This breakpoint occurs in NM_001113561.1. |
Length of Deletion Segment is 2.5Mb. |
Junction Sequence : GCCTTCAAGACCTGCTTAAACATTCGAATGTGGTAGACATGATGTTTGGGTCTTCTAAGGCTAAATCACAAGAAACCTTGCAACTTCTGGCTGTGTCTCTGCCTTCAAGACCTGCTTAAACATTCGAATGTGGTAGACATGATGTTTGGGTCTTCTAAGGCTAAATCACAAGAAACCTTGCAACTTCTGGCTGTGTCTCT |
The Junction Sequence is Inferred![]() |
Note: Green and Blue color indicate 5' and 3' sequence according to the breakpoint. |
Experimental Method: aCGH |
Reference Information |
PubMed ID: 18371933 | ||||
Authors: Baptista J,Mercer C,Prigmore E,Gribble SM,Carter NP,Maloney V,Thomas NS,Jacobs PA,Crolla JA | ||||
Journal: American journal of human genetics |
Go to Genome Browser ( Click the image ) |
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