nsv7137080
- 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:588
- Description:
NM_012401.4(PLXNB2):c.5197-337_5310del AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 269 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 269 SVs from 32 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv7137080 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000022.11 | Chr22 | 50,276,656 | 50,277,243 |
| nsv7137080 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 50,715,085 | 50,715,672 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18830804 | deletion | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV003313289.1, VCV001895427.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv18830804 | Submitted genomic | NC_000022.11:g.502 76656_50277243del | GRCh38 (hg38) | NC_000022.11 | Chr22 | 50,276,656 | 50,277,243 |
| nssv18830804 | Submitted genomic | NC_000022.10:g.507 15085_50715672del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 50,715,085 | 50,715,672 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18830804 | GRCh37: NC_000022.10:g.50715085_50715672del, GRCh38: NC_000022.11:g.50276656_50277243del | deletion | biparental | See cases | Pathogenic | ClinVar | RCV003313289.1, VCV001895427.1 |