nsv7094915
- 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:1,030,970
- Description:NC_000017.10:g.(?_7120455)_(8151423_?)del AND Li-Fraumeni syndrome
- Publication(s):Lu et al. 2014, No authors et al. 2021, No authors et al. 2021, Saslow et al. 2007, Schneider et al. 1999
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 3647 SVs from 94 studies. See in: genome view
Overlapping variant regions from other studies: 3648 SVs from 94 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7094915 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 7,217,136 | 8,248,105 |
| nsv7094915 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 7,120,455 | 8,151,423 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18789377 | deletion | Multiple | Multiple | Li-Fraumeni Syndrome; Li-Fraumeni syndrome; Li-Fraumeni syndrome | Pathogenic | ClinVar | RCV003111420.2, VCV002423278.4 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18789377 | Remapped | Perfect | NC_000017.11:g.(?_ 7217136)_(8248105_ ?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 7,217,136 | 8,248,105 |
| nssv18789377 | Submitted genomic | NC_000017.10:g.(?_ 7120455)_(8151423_ ?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 7,120,455 | 8,151,423 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18789377 | GRCh37: NC_000017.10:g.(?_7120455)_(8151423_?)del | deletion | germline | Li-Fraumeni Syndrome; Li-Fraumeni syndrome; Li-Fraumeni syndrome | Pathogenic | ClinVar | RCV003111420.2, VCV002423278.4 |