nsv3884912
- 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:10,547,178
- Description:GRCh37/hg19 2q32.2-33.1(chr2:191750202-202297376)x1 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: 24894 SVs from 120 studies. See in: genome view
Overlapping variant regions from other studies: 24894 SVs from 120 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3884912 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 190,885,476 | 201,432,653 |
| nsv3884912 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 191,750,202 | 202,297,376 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15152822 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000682165.1, VCV000562676.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15152822 | Remapped | Perfect | NC_000002.12:g.(?_ 190885476)_(201432 653_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 190,885,476 | 201,432,653 |
| nssv15152822 | Submitted genomic | NC_000002.11:g.(?_ 191750202)_(202297 376_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 191,750,202 | 202,297,376 |
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 | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15152822 | GRCh37: NC_000002.11:g.(?_191750202)_(202297376_?)del | copy number loss | germline | not provided | Pathogenic | ClinVar | RCV000682165.1, VCV000562676.1 | 1 |