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Entrez Gene ID: | 5339 |
Gene Name: | plectin |
Gene Aliases: |
EBS1, EBSMD, EBSND, EBSO, EBSOG, EBSPA, HD1, LGMD2Q, PCN, PLEC1, PLEC1b, PLTN |
Location: |
Chr.8:143915147-143976800 on Build GRCh38 |
Assay Gene Location: | Within Exon 43 |
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
| Target Variation |
Location | CNV Subtype |
Genes |
|---|---|---|---|
| nsv470249 | Chr.8:143889098 - 144519234 on Build GRCh38 | Loss |
|
| nsv824795 | Chr.8:143915993 - 143917638 on Build GRCh38 | Gain |
|
| nsv612903 | Chr.8:143911032 - 143923759 on Build GRCh38 | Loss |
|
| nsv515809 | Chr.8:143904439 - 144519234 on Build GRCh38 | Gain+Loss |
|
| dgv906n27 | Chr.8:143845100 - 144161320 on Build GRCh38 | Loss |
|
| nsv612904 | Chr.8:143916360 - 143920044 on Build GRCh38 | Loss |
|
| nsv950015 | Chr.8:143866633 - 144125597 on Build GRCh38 | Deletion |
|
| nsv1161815 | Chr.8:143775169 - 144080674 on Build GRCh38 | Deletion |
|
| dgv12432n54 | Chr.8:143902404 - 144007080 on Build GRCh38 | Loss |
|
| nsv824794 | Chr.8:143915958 - 143954439 on Build GRCh38 | Gain |
|
Set Membership: |
|