nsv1192402
- 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:359,624
- 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: 1025 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 408 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 1024 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 265 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1192402 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 52,371,233 | 52,730,856 |
| nsv1192402 | Remapped | Pass | GRCh38.p12 | PATCHES | Second Pass | NW_017363818.1 | Chr17|NW_0 17363818.1 | 1 | 246,895 |
| nsv1192402 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000017.10 | Chr17 | 50,448,593 | 50,808,216 |
| nsv1192402 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000017.9 | Chr17 | 47,803,592 | 48,163,215 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis |
|---|---|---|---|---|
| nssv7471186 | copy number loss | 53149 | Oligo aCGH | Probe signal intensity |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv7471186 | Remapped | Pass | NW_017363818.1:g.( ?_1)_(246895_?)del | GRCh38.p12 | Second Pass | NW_017363818.1 | Chr17|NW_0 17363818.1 | 1 | 246,895 |
| nssv7471186 | Remapped | Perfect | NC_000017.11:g.(?_ 52371233)_(5273085 6_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 52,371,233 | 52,730,856 |
| nssv7471186 | Remapped | Perfect | NC_000017.10:g.(?_ 50448593)_(5080821 6_?)del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 50,448,593 | 50,808,216 |
| nssv7471186 | Submitted genomic | NC_000017.9:g.(?_4 7803592)_(48163215 _?)del | NCBI36 (hg18) | NC_000017.9 | Chr17 | 47,803,592 | 48,163,215 |