nsv4449711
- 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:130,001
- 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: 950 SVs from 85 studies. See in: genome view
Overlapping variant regions from other studies: 950 SVs from 85 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv4449711 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 143,853,847 | 143,863,847 | 143,973,847 | 143,983,847 |
| nsv4449711 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 144,775,000 | 144,785,000 | 144,895,000 | 144,905,000 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis |
|---|---|---|---|---|
| nssv15768592 | duplication | SAMN00779982 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv15768592 | Remapped | Perfect | NC_000004.12:g.(14 3853847_143863847) _(143973847_143983 847)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 143,853,847 | 143,863,847 | 143,973,847 | 143,983,847 |
| nssv15768592 | Submitted genomic | NC_000004.11:g.(14 4775000_144785000) _(144895000_144905 000)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 144,775,000 | 144,785,000 | 144,895,000 | 144,905,000 |