nsv997107
- Organism: Homo sapiens
- Study:nstd45 (ClinGen Curated Dosage Sensitivity Map-obsoleted)
- Variant Type:copy number variation
- Method Type:Curated
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:118,454
- Description:DCX;This region was evaluated in the context of an affected MALE. Please review disease-specific literature for information regarding phenotype of this disorder in FEMALES.
- Publication(s):Gleeson et al. 1998, Riggs et al. 2011
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 348 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 348 SVs from 35 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv997107 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 111,293,779 | 111,412,232 |
| nsv997107 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 110,537,007 | 110,655,460 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Copy number |
|---|---|---|---|---|---|---|---|
| nssv3442546 | copy number loss | Curated | Curated | LISSENCEPHALY, X-LINKED, 1; LISX1 | Pathogenic | ClinGen Dosage Sensitivity Map | 0 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv3442546 | Remapped | Perfect | NC_000023.11:g.(?_ 111293779)_(111412 232_?)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 111,293,779 | 111,412,232 |
| nssv3442546 | Submitted genomic | NC_000023.10:g.(?_ 110537007)_(110655 460_?)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 110,537,007 | 110,655,460 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Copy number |
|---|---|---|---|---|---|---|
| nssv3442546 | GRCh37: NC_000023.10:g.(?_110537007)_(110655460_?)del | copy number loss | LISSENCEPHALY, X-LINKED, 1; LISX1 | Pathogenic | ClinGen Dosage Sensitivity Map | 0 |