nsv6312114
- 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:2,118,080
- Description:NC_000005.9:g.(?_63256278)_(65374358_?)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: 5003 SVs from 96 studies. See in: genome view
Overlapping variant regions from other studies: 5004 SVs from 96 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6312114 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 63,960,451 | 66,078,530 |
| nsv6312114 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 63,256,278 | 65,374,358 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17972205 | deletion | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001970200.1, VCV001456117.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17972205 | Remapped | Perfect | NC_000005.10:g.(?_ 63960451)_(6607853 0_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 63,960,451 | 66,078,530 |
| nssv17972205 | Submitted genomic | NC_000005.9:g.(?_6 3256278)_(65374358 _?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 63,256,278 | 65,374,358 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17972205 | GRCh37: NC_000005.9:g.(?_63256278)_(65374358_?)del | deletion | germline | not provided | Pathogenic | ClinVar | RCV001970200.1, VCV001456117.1 |