Event ID![]() ![]() |
Disease: Neurofibromatosis Type 1 ( DOID![]() |
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Event Information |
Precision: A![]() |
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Chromosome Rearrangement Type: Deletion![]() |
Chromosome: 17 |
Karyotype![]() |
Breakpoints Information: |
First Breakpoint![]() |
Location: q11.2 |
Exact position: Chr17: 29079990bp |
This breakpoint occurs in intron6 of NR_024187.1. |
Second Breakpoint![]() |
Location: q11.2 |
Exact position: Chr17: 30315658bp |
This breakpoint occurs in intron6 of NM_015355.2. |
Length of Deletion Segment is 1.2Mb. |
Junction Sequence : TGAGTTGGGAAGGCAGAGGAAGAGTTATCCATGAGCCGGGCCAACCAGAGCTGCAGCGCCTATGCCCAACAGCATCCGTATCTACAGAGGAGCCAGGGAGTGAGTTGGGAAGGCAGAGGAAGAGTTATCCATGAGCCGGGCCAACCAGAGCTGCAGCGCCTATGCCCAACAGCATCCGTATCTACAGAGGAGCCAGGGAG |
The Junction Sequence is Inferred![]() |
Note: Green and Blue color indicate 5' and 3' sequence according to the breakpoint. |
Experimental Method: PCR, DNA sequencing |
Reference Information |
PubMed ID: 17999360 | ||||
Authors: Steinmann K,Cooper DN,Kluwe L,Chuzhanova NA,Senger C,Serra E,Lazaro C,Gilaberte M,Wimmer K,Mautner VF,Kehrer-Sawatzki H | ||||
Journal: American journal of human genetics |
Go to Genome Browser ( Click the image ) |
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