nsv4674912
- 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:5,565,333
- Description:GRCh37/hg19 17p13.3-13.2(chr17:8547-5627408)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: 29952 SVs from 118 studies. See in: genome view
Overlapping variant regions from other studies: 26985 SVs from 118 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4674912 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 158,756 | 5,724,088 |
| nsv4674912 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 8,547 | 5,627,408 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16208665 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV001007429.1, VCV000816504.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16208665 | Remapped | Good | NC_000017.11:g.(?_ 158756)_(5724088_? )del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 158,756 | 5,724,088 |
| nssv16208665 | Submitted genomic | NC_000017.10:g.(?_ 8547)_(5627408_?)d el | GRCh37 (hg19) | NC_000017.10 | Chr17 | 8,547 | 5,627,408 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16208665 | GRCh37: NC_000017.10:g.(?_8547)_(5627408_?)del | copy number loss | unknown | See cases | Pathogenic | ClinVar | RCV001007429.1, VCV000816504.1 | 1 |