nsv499238
- 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:2,815
- 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: 200 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 198 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 8 SVs from 8 studies. See in: genome view
Overlapping variant regions from other studies: 32 SVs from 16 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv499238 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 41,375,715 | 41,378,529 |
| nsv499238 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000017.10 | Chr17 | 39,531,967 | 39,534,781 |
| nsv499238 | Remapped | Pass | GRCh37.p13 | PATCHES | Second Pass | NW_003315953.1 | Chr17|NW_0 03315953.1 | 54,429 | 64,367 |
| nsv499238 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000017.9 | Chr17 | 36,785,493 | 36,788,307 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv586293 | copy number gain | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv586293 | Remapped | Perfect | NC_000017.11:g.413 75715_41378529dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 41,375,715 | 41,378,529 |
| nssv586293 | Remapped | Pass | NW_003315953.1:g.5 4429_64367dup | GRCh37.p13 | Second Pass | NW_003315953.1 | Chr17|NW_0 03315953.1 | 54,429 | 64,367 |
| nssv586293 | Remapped | Perfect | NC_000017.10:g.395 31967_39534781dup | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 39,531,967 | 39,534,781 |
| nssv586293 | Submitted genomic | NC_000017.9:g.3678 5493_36788307dup | NCBI36 (hg18) | NC_000017.9 | Chr17 | 36,785,493 | 36,788,307 |