nsv947425
- 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:16,583
- 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: 318 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 318 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 138 SVs from 23 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv947425 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 34,631,081 | 34,647,663 |
| nsv947425 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 35,096,682 | 35,113,264 |
| nsv947425 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 34,869,269 | 34,885,851 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv2761976 | deletion | HGDP01029 | Sequencing | Read depth | 0 | 17,182 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv2761976 | Remapped | Perfect | NC_000001.11:g.(?_ 34631081)_(3464766 3_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 34,631,081 | 34,647,663 |
| nssv2761976 | Remapped | Perfect | NC_000001.10:g.(?_ 35096682)_(3511326 4_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 35,096,682 | 35,113,264 |
| nssv2761976 | Submitted genomic | NC_000001.9:g.(?_3 4869269)_(34885851 _?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 34,869,269 | 34,885,851 |