nsv6637505
- 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:1,636,426
- Description:
GRCh37/hg19 17p13.3(chr17:526-1690452)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: 14808 SVs from 108 studies. See in: genome view
Overlapping variant regions from other studies: 11813 SVs from 105 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6637505 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 150,733 | 1,787,158 |
| nsv6637505 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 526 | 1,690,452 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18330210 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV002473942.1, VCV001808625.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18330210 | Remapped | Good | NC_000017.11:g.(?_ 150733)_(1787158_? )del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 150,733 | 1,787,158 |
| nssv18330210 | Submitted genomic | NC_000017.10:g.(?_ 526)_(1690452_?)de l | GRCh37 (hg19) | NC_000017.10 | Chr17 | 526 | 1,690,452 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18330210 | GRCh37: NC_000017.10:g.(?_526)_(1690452_?)del | copy number loss | unknown | not provided | Pathogenic | ClinVar | RCV002473942.1, VCV001808625.1 | 1 |