nsv4683390
- 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:1,523,950
- Description:NC_000016.9:g.(?_624055)_(2148005_?)del AND Tuberous sclerosis 2
- Publication(s):ACMG Board of Directors et al. 2014, Green et al. 2013, Kalia et al. 2016, Miller et al. 2021, Miller et al. 2022, Northrup et al. 1999, Schaefer et al. 2013
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 9681 SVs from 115 studies. See in: genome view
Overlapping variant regions from other studies: 9681 SVs from 115 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4683390 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 574,055 | 2,098,004 |
| nsv4683390 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 624,055 | 2,148,005 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16214818 | deletion | Multiple | Multiple | TUBEROUS SCLEROSIS 2; TSC2; Tuberous Sclerosis Complex; Tuberous sclerosis 2; Tuberous sclerosis complex | Pathogenic | ClinVar | RCV001033183.1, VCV000832709.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16214818 | Remapped | Perfect | NC_000016.10:g.(?_ 574055)_(2098004_? )del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 574,055 | 2,098,004 |
| nssv16214818 | Submitted genomic | NC_000016.9:g.(?_6 24055)_(2148005_?) del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 624,055 | 2,148,005 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16214818 | GRCh37: NC_000016.9:g.(?_624055)_(2148005_?)del | deletion | germline | TUBEROUS SCLEROSIS 2; TSC2; Tuberous Sclerosis Complex; Tuberous sclerosis 2; Tuberous sclerosis complex | Pathogenic | ClinVar | RCV001033183.1, VCV000832709.1 |