nsv6308989
- 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:26,976
- Description:NC_000010.10:g.(?_17632363)_(17659338_?)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: 158 SVs from 46 studies. See in: genome view
Overlapping variant regions from other studies: 156 SVs from 45 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6308989 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 17,590,364 | 17,617,339 |
| nsv6308989 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 17,632,363 | 17,659,338 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17968908 | deletion | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001943790.3, VCV001421427.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17968908 | Remapped | Perfect | NC_000010.11:g.(?_ 17590364)_(1761733 9_?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 17,590,364 | 17,617,339 |
| nssv17968908 | Submitted genomic | NC_000010.10:g.(?_ 17632363)_(1765933 8_?)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 17,632,363 | 17,659,338 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17968908 | GRCh37: NC_000010.10:g.(?_17632363)_(17659338_?)del | deletion | germline | not provided | Pathogenic | ClinVar | RCV001943790.3, VCV001421427.3 |