nsv1398664
- 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:240,318
- Description:GRCh37/hg19 2p16.3(chr2:51005771-51246088)x1 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: 1175 SVs from 80 studies. See in: genome view
Overlapping variant regions from other studies: 1175 SVs from 80 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1398664 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 50,778,633 | 51,018,950 |
| nsv1398664 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 51,005,771 | 51,246,088 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv8640025 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000184078.2, VCV000202224.3 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv8640025 | Remapped | Perfect | NC_000002.12:g.(?_ 50778633)_(5101895 0_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 50,778,633 | 51,018,950 |
| nssv8640025 | Submitted genomic | NC_000002.11:g.(?_ 51005771)_(5124608 8_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 51,005,771 | 51,246,088 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv8640025 | GRCh37: NC_000002.11:g.(?_51005771)_(51246088_?)del | copy number loss | maternal | See cases | Pathogenic | ClinVar | RCV000184078.2, VCV000202224.3 | 1 |