nsv6310334
- 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:563,804
- Description:NC_000017.10:g.(?_7571752)_(8135555_?)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: 1947 SVs from 78 studies. See in: genome view
Overlapping variant regions from other studies: 1947 SVs from 78 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6310334 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 7,668,434 | 8,232,237 |
| nsv6310334 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 7,571,752 | 8,135,555 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18788392 | deletion | Multiple | Multiple | Li-Fraumeni Syndrome; Li-Fraumeni syndrome; Li-Fraumeni syndrome | Pathogenic | ClinVar | RCV003107874.7, VCV001376044.31 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18788392 | Remapped | Perfect | NC_000017.11:g.(?_ 7668434)_(8232237_ ?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 7,668,434 | 8,232,237 |
| nssv18788392 | Submitted genomic | NC_000017.10:g.(?_ 7571752)_(8135555_ ?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 7,571,752 | 8,135,555 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18788392 | GRCh37: NC_000017.10:g.(?_7571752)_(8135555_?)del | deletion | germline | Li-Fraumeni Syndrome; Li-Fraumeni syndrome; Li-Fraumeni syndrome | Pathogenic | ClinVar | RCV003107874.7, VCV001376044.31 |