nsv5674260
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:670,463
- Description:GRCh38/hg38 17q25.3(chr17:82586979-83257441)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: 4971 SVs from 98 studies. See in: genome view
Overlapping variant regions from other studies: 4855 SVs from 97 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5674260 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 82,586,979 | 83,257,441 | ||
| nsv5674260 | Remapped | Good | GRCh37.p13 | Primary Assembly | First Pass | NC_000017.10 | Chr17 | 80,544,855 | 81,195,210 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17173188 | copy number loss | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV001420499.1, VCV001098564.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17173188 | Submitted genomic | NC_000017.11:g.(?_ 82586979)_(8325744 1_?)del | GRCh38 (hg38) | NC_000017.11 | Chr17 | 82,586,979 | 83,257,441 | ||
| nssv17173188 | Remapped | Good | NC_000017.10:g.(?_ 80544855)_(8119521 0_?)del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 80,544,855 | 81,195,210 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv17173188 | GRCh38: NC_000017.11:g.(?_82586979)_(83257441_?)del | copy number loss | unknown | See cases | Uncertain significance | ClinVar | RCV001420499.1, VCV001098564.1 | 1 |