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: |
First Breakpoint![]() |
Location: q22.2 |
Exact position: ChrX: 102859571bp |
This breakpoint occurs in an intergenic region |
Second Breakpoint![]() |
Location: q22.2 |
Exact position: ChrX: 103048977bp |
This breakpoint occurs in an intergenic region |
Length of Duplication Segment is 190Kb. |
Junction Sequence is Unavailable![]() |
Experimental Method: Long-range PCR, DNA sequencing |
Reference Information |
PubMed ID: 18160035 | ||||
Authors: Lee JA,Carvalho CM,Lupski JR | ||||
Journal: Cell |
Go to Genome Browser ( Click the image ) |
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