nsv7093248
- 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:90
- Description:NM_019066.5(MAGEL2):c.444_533del (p.Ser150_Met179del) 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: 193 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 195 SVs from 29 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv7093248 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000015.10 | Chr15 | 23,647,210 | 23,647,299 |
| nsv7093248 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 23,892,357 | 23,892,446 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18786434 | deletion | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV002685886.2, VCV001948978.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv18786434 | Submitted genomic | NC_000015.10:g.236 47210_23647299del | GRCh38 (hg38) | NC_000015.10 | Chr15 | 23,647,210 | 23,647,299 |
| nssv18786434 | Submitted genomic | NC_000015.9:g.2389 2357_23892446del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 23,892,357 | 23,892,446 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18786434 | GRCh37: NC_000015.9:g.23892357_23892446del, GRCh38: NC_000015.10:g.23647210_23647299del | deletion | see ClinVar for details | not provided | Uncertain significance | ClinVar | RCV002685886.2, VCV001948978.3 |