Event ID![]() ![]() |
Disease: Pelizaeus-Merzbacher Disease ( DOID![]() |
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Event Information |
Precision: A![]() |
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Chromosome Rearrangement Type: Duplication![]() |
Chromosome: X |
Karyotype![]() |
Breakpoints Information: |
Insertion Breakpoint![]() |
Location: q22.2 |
Exact position: ChrX: 103223416bp |
This breakpoint occurs in an intergenic region |
First Breakpoint![]() |
Location: q22.2 |
Exact position: ChrX: 102943390bp |
This breakpoint occurs in an intergenic region |
Second Breakpoint![]() |
Location: q22.2 |
Exact position: ChrX: 103223416bp |
This breakpoint occurs in an intergenic region |
Length of Duplication Segment is 280026bp. |
Junction Sequence(5'): TGAATCAGGGGTATATATTTTTTTTTTCCAAATAAGCAAGGATTGAGATTTATGTCCCTGAATCCATCTATTATCTGCAAAACTGGCAGTACCAGGGCTTTGCTCGCAACTCACCCAAACTGAAAATACAGATAGCTGTTCCGTCAGTAAAGATAGATAAGAACTCATCAGTAAAACCTGGACCCTGGTATTGAAAACTG |
Junction Sequence(3'): TGAATCAGGGGTATATATTTTTTTTTTCCAAATAAGCAAGGATTGAGATTTATGTCCCTGAATCCATCTATTATCTGCAAAACTGGCAGTACCAGGGCTTTTGTTATAGCAGTTGTATTTATAGGGAAAGGAAAAGGCTGGAGTTAAATGATTGTCTTCTTTTATGCATTAACATCCCTTGAAAATCACTGGTCAGTGGC |
The Junction Sequence is Inferred![]() |
Note: Green and Blue color indicate 5' and 3' sequence according to the breakpoint. |
Experimental Method: FISH, LR-PCR, DNA sequencing |
Reference Information |
PubMed ID: 16380909 | ||||
Authors: Woodward KJ,Cundall M,Sperle K,Sistermans EA,Ross M,Howell G,Gribble SM,Burford DC,Carter NP,Hobson DL,Garbern JY,Kamholz J,Heng H,Hodes ME,Malcolm S,Hobson GM | ||||
Journal: American journal of human genetics |
Go to Genome Browser ( Click the image ) |
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