nsv997108
- 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:189,264
- Description:CHD7
- Publication(s):Bartels et al. 2010, Lalani et al. 2006, Riggs et al. 2011, Wincent et al. 2009
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 415 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 415 SVs from 49 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv997108 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 60,678,765 | 60,868,028 |
| nsv997108 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 61,591,324 | 61,780,587 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Copy number |
|---|---|---|---|---|---|---|---|
| nssv3442548 | copy number loss | Curated | Curated | CHARGE SYNDROME | Pathogenic | ClinGen Dosage Sensitivity Map | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv3442548 | Remapped | Perfect | NC_000008.11:g.(?_ 60678765)_(6086802 8_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 60,678,765 | 60,868,028 |
| nssv3442548 | Submitted genomic | NC_000008.10:g.(?_ 61591324)_(6178058 7_?)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 61,591,324 | 61,780,587 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Copy number |
|---|---|---|---|---|---|---|
| nssv3442548 | GRCh37: NC_000008.10:g.(?_61591324)_(61780587_?)del | copy number loss | CHARGE SYNDROME | Pathogenic | ClinGen Dosage Sensitivity Map | 1 |