nsv3921425
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:5,451,466
- Description:GRCh38/hg38 15q21.3-22.2(chr15:57567950-63019415)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: 13868 SVs from 109 studies. See in: genome view
Overlapping variant regions from other studies: 13869 SVs from 109 studies. See in: genome view
Overlapping variant regions from other studies: 3784 SVs from 29 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3921425 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000015.10 | Chr15 | 57,567,950 | 63,019,415 |
| nsv3921425 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 57,860,148 | 63,311,614 |
| nsv3921425 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000015.8 | Chr15 | 55,647,440 | 61,098,667 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15121017 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000051622.6, VCV000057882.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15121017 | Submitted genomic | NC_000015.10:g.(?_ 57567950)_(6301941 5_?)del | GRCh38 (hg38) | NC_000015.10 | Chr15 | 57,567,950 | 63,019,415 |
| nssv15121017 | Submitted genomic | NC_000015.9:g.(?_5 7860148)_(63311614 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 57,860,148 | 63,311,614 |
| nssv15121017 | Submitted genomic | NC_000015.8:g.(?_5 5647440)_(61098667 _?)del | NCBI36 (hg18) | NC_000015.8 | Chr15 | 55,647,440 | 61,098,667 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15121017 | GRCh37: NC_000015.9:g.(?_57860148)_(63311614_?)del, GRCh38: NC_000015.10:g.(?_57567950)_(63019415_?)del, NCBI36: NC_000015.8:g.(?_55647440)_(61098667_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000051622.6, VCV000057882.1 | 1 |