nsv1192902
- 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:946,778
- 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: 2240 SVs from 80 studies. See in: genome view
Overlapping variant regions from other studies: 2240 SVs from 80 studies. See in: genome view
Overlapping variant regions from other studies: 646 SVs from 21 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1192902 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 44,907,821 | 45,854,598 |
| nsv1192902 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 44,875,558 | 45,822,335 |
| nsv1192902 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 44,983,536 | 45,930,313 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv7473024 | copy number gain | 12208 | Oligo aCGH | Probe signal intensity | nssv7459116 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv7473024 | Remapped | Perfect | NC_000006.12:g.(?_ 44907821)_(4585459 8_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 44,907,821 | 45,854,598 |
| nssv7473024 | Remapped | Perfect | NC_000006.11:g.(?_ 44875558)_(4582233 5_?)dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 44,875,558 | 45,822,335 |
| nssv7473024 | Submitted genomic | NC_000006.10:g.(?_ 44983536)_(4593031 3_?)dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 44,983,536 | 45,930,313 |