nsv3883128
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:13,155
- Description:NC_000022.11:g.(29668447_29671826)_(29681601_?
)del AND Schwannomatosis 1 - Publication(s):Dhamija et al. 2018, Honda et al. 1995, Radtke et al. 2020
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 126 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 126 SVs from 39 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| nsv3883128 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000022.11 | Chr22 | 29,668,447 | 29,671,826 | 29,681,601 | ||
| nsv3883128 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000022.10 | Chr22 | 30,064,436 | 30,067,815 | 30,077,590 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15120113 | deletion | Multiple | Multiple | Neurofibromatosis type 3; SCHWANNOMATOSIS 1; SWNTS1; Schwannomatosis; Schwannomatosis 1 | Pathogenic | ClinVar | RCV000003459.8, VCV000003298.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| nssv15120113 | Submitted genomic | NC_000022.11:g.(29 668447_29671826)_( 29681601_?)del | GRCh38 (hg38) | NC_000022.11 | Chr22 | 29,668,447 | 29,671,826 | 29,681,601 | ||
| nssv15120113 | Remapped | Perfect | NC_000022.10:g.(30 064436_30067815)_( 30077590_?)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 30,064,436 | 30,067,815 | 30,077,590 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15120113 | GRCh38: NC_000022.11:g.(29668447_29671826)_(29681601_?)del | deletion | somatic | Neurofibromatosis type 3; SCHWANNOMATOSIS 1; SWNTS1; Schwannomatosis; Schwannomatosis 1 | Pathogenic | ClinVar | RCV000003459.8, VCV000003298.2 |