nsv1190323
- 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:489,581
- 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: 1737 SVs from 95 studies. See in: genome view
Overlapping variant regions from other studies: 1737 SVs from 95 studies. See in: genome view
Overlapping variant regions from other studies: 551 SVs from 27 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1190323 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 14,861,802 | 15,351,382 |
| nsv1190323 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000008.10 | Chr8 | 14,719,311 | 15,208,891 |
| nsv1190323 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000008.9 | Chr8 | 14,763,682 | 15,253,262 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis |
|---|---|---|---|---|
| nssv7461382 | copy number loss | 35944 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv7461382 | Remapped | Perfect | NC_000008.11:g.(?_ 14861802)_(1535138 2_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 14,861,802 | 15,351,382 |
| nssv7461382 | Remapped | Perfect | NC_000008.10:g.(?_ 14719311)_(1520889 1_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 14,719,311 | 15,208,891 |
| nssv7461382 | Submitted genomic | NC_000008.9:g.(?_1 4763682)_(15253262 _?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 14,763,682 | 15,253,262 |