nsv4449710
- Organism: Homo sapiens
- Study:nstd177 (Louzada et al. 2020)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:122,001
- Publication(s):Louzada et al. 2020
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 805 SVs from 81 studies. See in: genome view
Overlapping variant regions from other studies: 805 SVs from 81 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv4449710 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 143,837,586 | 143,839,586 | 143,957,586 | 143,959,586 |
| nsv4449710 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 144,758,739 | 144,760,739 | 144,878,739 | 144,880,739 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis |
|---|---|---|---|---|
| nssv15768602 | duplication | BR981404021 | Sequencing | Read depth |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv15768602 | Remapped | Perfect | NC_000004.12:g.(14 3837586_143839586) _(143957586_143959 586)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 143,837,586 | 143,839,586 | 143,957,586 | 143,959,586 |
| nssv15768602 | Submitted genomic | NC_000004.11:g.(14 4758739_144760739) _(144878739_144880 739)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 144,758,739 | 144,760,739 | 144,878,739 | 144,880,739 |