nsv6308940
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:72
- Description:
NM_000391.4(TPP1):c.1363_1425+9del 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: 58 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 58 SVs from 23 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv6308940 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000011.10 | Chr11 | 6,615,162 | 6,615,233 |
| nsv6308940 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 6,636,393 | 6,636,464 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17974702 | deletion | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001917200.2, VCV001380369.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv17974702 | Submitted genomic | NC_000011.10:g.661 5162_6615233del | GRCh38 (hg38) | NC_000011.10 | Chr11 | 6,615,162 | 6,615,233 |
| nssv17974702 | Submitted genomic | NC_000011.9:g.6636 393_6636464del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 6,636,393 | 6,636,464 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17974702 | GRCh37: NC_000011.9:g.6636393_6636464del, GRCh38: NC_000011.10:g.6615162_6615233del | deletion | germline | not provided | Pathogenic | ClinVar | RCV001917200.2, VCV001380369.2 |