nsv498699
- Organism: Homo sapiens
- Study:nstd47 (Kidd et al. 2010b)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:23,189
- Publication(s):Kidd et al. 2010
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: 188 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 188 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 50 SVs from 12 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv498699 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 193,001,306 | 193,024,494 |
| nsv498699 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 192,970,436 | 192,993,624 |
| nsv498699 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 191,237,059 | 191,260,247 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv585413 | copy number loss | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv585413 | Remapped | Perfect | NC_000001.11:g.193 001306_193024494de l | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 193,001,306 | 193,024,494 |
| nssv585413 | Remapped | Perfect | NC_000001.10:g.192 970436_192993624de l | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 192,970,436 | 192,993,624 |
| nssv585413 | Submitted genomic | NC_000001.9:g.1912 37059_191260247del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 191,237,059 | 191,260,247 |