nsv1193397
- 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:292,610
- 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: 746 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 746 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 190 SVs from 19 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1193397 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 157,377,215 | 157,669,824 |
| nsv1193397 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 158,233,727 | 158,526,336 |
| nsv1193397 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 157,941,973 | 158,234,582 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv7474567 | copy number loss | 30081 | Oligo aCGH | Probe signal intensity | nssv7459146 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv7474567 | Remapped | Perfect | NC_000002.12:g.(?_ 157377215)_(157669 824_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 157,377,215 | 157,669,824 |
| nssv7474567 | Remapped | Perfect | NC_000002.11:g.(?_ 158233727)_(158526 336_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 158,233,727 | 158,526,336 |
| nssv7474567 | Submitted genomic | NC_000002.10:g.(?_ 157941973)_(158234 582_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 157,941,973 | 158,234,582 |