nsv6637849
- 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:167,327
- Description:GRCh37/hg19 17p13.3(chr17:1689217-1856543)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: 776 SVs from 64 studies. See in: genome view
Overlapping variant regions from other studies: 776 SVs from 64 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6637849 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 1,785,923 | 1,953,249 |
| nsv6637849 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 1,689,217 | 1,856,543 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18329003 | copy number loss | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV002474989.1, VCV001809144.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18329003 | Remapped | Perfect | NC_000017.11:g.(?_ 1785923)_(1953249_ ?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 1,785,923 | 1,953,249 |
| nssv18329003 | Submitted genomic | NC_000017.10:g.(?_ 1689217)_(1856543_ ?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 1,689,217 | 1,856,543 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18329003 | GRCh37: NC_000017.10:g.(?_1689217)_(1856543_?)del | copy number loss | unknown | not provided | Uncertain significance | ClinVar | RCV002474989.1, VCV001809144.1 | 1 |