nsv3873368
- 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:8,637,273
- Description:GRCh37/hg19 2q35-36.3(chr2:218813434-227450699)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: 21716 SVs from 121 studies. See in: genome view
Overlapping variant regions from other studies: 21716 SVs from 121 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3873368 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 217,948,711 | 226,585,983 |
| nsv3873368 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 218,813,434 | 227,450,699 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15152717 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000682163.1, VCV000562674.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15152717 | Remapped | Perfect | NC_000002.12:g.(?_ 217948711)_(226585 983_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 217,948,711 | 226,585,983 |
| nssv15152717 | Submitted genomic | NC_000002.11:g.(?_ 218813434)_(227450 699_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 218,813,434 | 227,450,699 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15152717 | GRCh37: NC_000002.11:g.(?_218813434)_(227450699_?)del | copy number loss | germline | not provided | Pathogenic | ClinVar | RCV000682163.1, VCV000562674.1 | 1 |