nsv7093400
- 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:4,881,969
- Description:GRCh37/hg19 15q11.2-13.1(chr15:23684645-28566612)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: 17385 SVs from 132 studies. See in: genome view
Overlapping variant regions from other studies: 17400 SVs from 132 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7093400 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 23,439,498 | 28,321,466 |
| nsv7093400 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 23,684,645 | 28,566,612 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18786364 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV002511814.3, VCV001879315.4 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18786364 | Remapped | Perfect | NC_000015.10:g.(?_ 23439498)_(2832146 6_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 23,439,498 | 28,321,466 |
| nssv18786364 | Submitted genomic | NC_000015.9:g.(?_2 3684645)_(28566612 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 23,684,645 | 28,566,612 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18786364 | GRCh37: NC_000015.9:g.(?_23684645)_(28566612_?)del | copy number loss | germline | not provided | Pathogenic | ClinVar | RCV002511814.3, VCV001879315.4 | 1 |