nsv980496
- Organism: Homo sapiens
- Study:nstd82 (Sudmant et al. 2013)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:12,752
- Publication(s):Sudmant et al. 2013
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: 182 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 182 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 59 SVs from 13 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv980496 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 127,457,287 | 127,470,038 |
| nsv980496 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 128,378,442 | 128,391,193 |
| nsv980496 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000004.10 | Chr4 | 128,597,892 | 128,610,643 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv2757893 | deletion | HGDP01029 | Sequencing | Read depth | 1 | 17,182 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv2757893 | Remapped | Perfect | NC_000004.12:g.(?_ 127457287)_(127470 038_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 127,457,287 | 127,470,038 |
| nssv2757893 | Remapped | Perfect | NC_000004.11:g.(?_ 128378442)_(128391 193_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 128,378,442 | 128,391,193 |
| nssv2757893 | Submitted genomic | NC_000004.10:g.(?_ 128597892)_(128610 643_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 128,597,892 | 128,610,643 |