nsv3874571
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:12,989,983
- Description:GRCh37/hg19 6q16.1-21(chr6:97384446-110247755)x1 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 31654 SVs from 130 studies. See in: genome view
Overlapping variant regions from other studies: 31506 SVs from 130 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3874571 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 96,936,570 | 109,926,552 |
| nsv3874571 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 97,384,446 | 110,247,755 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15149504 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000510703.2, VCV000442063.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15149504 | Remapped | Good | NC_000006.12:g.(?_ 96936570)_(1099265 52_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 96,936,570 | 109,926,552 |
| nssv15149504 | Submitted genomic | NC_000006.11:g.(?_ 97384446)_(1102477 55_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 97,384,446 | 110,247,755 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15149504 | GRCh37: NC_000006.11:g.(?_97384446)_(110247755_?)del | copy number loss | de novo | See cases | Pathogenic | ClinVar | RCV000510703.2, VCV000442063.2 | 1 |