nsv6637477
- 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:3,530,661
- Description:GRCh37/hg19 15q24.1-24.3(chr15:74353736-77884397)x1 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: 9555 SVs from 124 studies. See in: genome view
Overlapping variant regions from other studies: 9557 SVs from 124 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6637477 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 74,061,395 | 77,592,055 |
| nsv6637477 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 74,353,736 | 77,884,397 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18330320 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV002474580.1, VCV001808735.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18330320 | Remapped | Perfect | NC_000015.10:g.(?_ 74061395)_(7759205 5_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 74,061,395 | 77,592,055 |
| nssv18330320 | Submitted genomic | NC_000015.9:g.(?_7 4353736)_(77884397 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 74,353,736 | 77,884,397 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18330320 | GRCh37: NC_000015.9:g.(?_74353736)_(77884397_?)del | copy number loss | unknown | not provided | Pathogenic | ClinVar | RCV002474580.1, VCV001808735.1 | 1 |