nsv1195454
- 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:351,407
- 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: 1459 SVs from 90 studies. See in: genome view
Overlapping variant regions from other studies: 1459 SVs from 90 studies. See in: genome view
Overlapping variant regions from other studies: 524 SVs from 26 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1195454 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 194,869,335 | 195,220,741 |
| nsv1195454 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 195,734,059 | 196,085,465 |
| nsv1195454 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 195,442,304 | 195,793,710 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis |
|---|---|---|---|---|
| nssv7464844 | copy number loss | 31776 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv7464844 | Remapped | Perfect | NC_000002.12:g.(?_ 194869335)_(195220 741_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 194,869,335 | 195,220,741 |
| nssv7464844 | Remapped | Perfect | NC_000002.11:g.(?_ 195734059)_(196085 465_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 195,734,059 | 196,085,465 |
| nssv7464844 | Submitted genomic | NC_000002.10:g.(?_ 195442304)_(195793 710_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 195,442,304 | 195,793,710 |