nsv1192749
- Organism: Homo sapiens
- Study:nstd113 (Polyak et al. 2015)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:233,310
- Publication(s):Polyak et al. 2015
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: 1299 SVs from 80 studies. See in: genome view
Overlapping variant regions from other studies: 1299 SVs from 80 studies. See in: genome view
Overlapping variant regions from other studies: 427 SVs from 22 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1192749 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 169,184,894 | 169,418,203 |
| nsv1192749 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 169,584,989 | 169,818,298 |
| nsv1192749 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 169,326,914 | 169,560,223 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv7468176 | copy number gain | 17723 | Oligo aCGH | Probe signal intensity | nssv7460102, nssv7462363, nssv7472428 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv7468176 | Remapped | Perfect | NC_000006.12:g.(?_ 169184894)_(169418 203_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 169,184,894 | 169,418,203 |
| nssv7468176 | Remapped | Perfect | NC_000006.11:g.(?_ 169584989)_(169818 298_?)dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 169,584,989 | 169,818,298 |
| nssv7468176 | Submitted genomic | NC_000006.10:g.(?_ 169326914)_(169560 223_?)dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 169,326,914 | 169,560,223 |