nsv1196351
- 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:2,818,759
- 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: 6334 SVs from 103 studies. See in: genome view
Overlapping variant regions from other studies: 6334 SVs from 103 studies. See in: genome view
Overlapping variant regions from other studies: 1701 SVs from 25 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1196351 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 40,653,375 | 43,472,133 |
| nsv1196351 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 41,119,047 | 43,937,804 |
| nsv1196351 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 40,891,634 | 43,710,391 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis |
|---|---|---|---|---|
| nssv7467223 | copy number loss | 46214 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv7467223 | Remapped | Perfect | NC_000001.11:g.(?_ 40653375)_(4347213 3_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 40,653,375 | 43,472,133 |
| nssv7467223 | Remapped | Perfect | NC_000001.10:g.(?_ 41119047)_(4393780 4_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 41,119,047 | 43,937,804 |
| nssv7467223 | Submitted genomic | NC_000001.9:g.(?_4 0891634)_(43710391 _?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 40,891,634 | 43,710,391 |