nsv6137741
- 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:52
- Description:
NM_000321.3(RB1):c.2106+96_2106+147del 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: 108 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 108 SVs from 24 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv6137741 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000013.11 | Chr13 | 48,459,928 | 48,459,979 |
| nsv6137741 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000013.10 | Chr13 | 49,034,064 | 49,034,115 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17683519 | deletion | Multiple | Multiple | not provided | Benign | ClinVar | RCV001663071.2, VCV001253514.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv17683519 | Submitted genomic | NC_000013.11:g.484 59928_48459979del | GRCh38 (hg38) | NC_000013.11 | Chr13 | 48,459,928 | 48,459,979 |
| nssv17683519 | Submitted genomic | NC_000013.10:g.490 34064_49034115del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 49,034,064 | 49,034,115 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17683519 | GRCh37: NC_000013.10:g.49034064_49034115del, GRCh38: NC_000013.11:g.48459928_48459979del | deletion | germline | not provided | Benign | ClinVar | RCV001663071.2, VCV001253514.2 |