nsv7094928
- 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:504,975
- Description:
NC_000017.10:g.(?_882539)_(1387567_?)del 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: 4492 SVs from 102 studies. See in: genome view
Overlapping variant regions from other studies: 1778 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 4492 SVs from 102 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7094928 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 979,299 | 1,484,273 |
| nsv7094928 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187613.1 | Chr17|NT_1 87613.1 | 18,546 | 391,357 |
| nsv7094928 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 882,539 | 1,387,567 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18789453 | deletion | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV003111499.2, VCV002426763.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18789453 | Remapped | Pass | NT_187613.1:g.(?_1 8546)_(391357_?)de l | GRCh38.p12 | Second Pass | NT_187613.1 | Chr17|NT_1 87613.1 | 18,546 | 391,357 |
| nssv18789453 | Remapped | Good | NC_000017.11:g.(?_ 979299)_(1484273_? )del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 979,299 | 1,484,273 |
| nssv18789453 | Submitted genomic | NC_000017.10:g.(?_ 882539)_(1387567_? )del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 882,539 | 1,387,567 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18789453 | GRCh37: NC_000017.10:g.(?_882539)_(1387567_?)del | deletion | germline | not provided | Pathogenic | ClinVar | RCV003111499.2, VCV002426763.2 |