nsv6311726
- 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:1,564,792
- Description:
NC_000004.11:g.(?_493125)_(2065854_?)del AND not provided
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 8780 SVs from 106 studies. See in: genome view
Overlapping variant regions from other studies: 8650 SVs from 106 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6311726 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 499,336 | 2,064,127 |
| nsv6311726 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 493,125 | 2,065,854 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17972432 | deletion | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001975185.3, VCV001459277.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17972432 | Remapped | Good | NC_000004.12:g.(?_ 499336)_(2064127_? )del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 499,336 | 2,064,127 |
| nssv17972432 | Submitted genomic | NC_000004.11:g.(?_ 493125)_(2065854_? )del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 493,125 | 2,065,854 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17972432 | GRCh37: NC_000004.11:g.(?_493125)_(2065854_?)del | deletion | germline | not provided | Pathogenic | ClinVar | RCV001975185.3, VCV001459277.3 |