nsv998485
- Organism: Homo sapiens
- Study:nstd100 (Coe et al. 2014)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:776,193
- Publication(s):Coe et al. 2014
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: 1887 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 1888 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 518 SVs from 24 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv998485 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 204,543,090 | 205,319,282 |
| nsv998485 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 205,407,813 | 206,184,006 |
| nsv998485 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 205,116,058 | 205,892,251 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv3459066 | copy number loss | 9881698 | Oligo aCGH | Probe signal intensity | nssv3446199, nssv3450690 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv3459066 | Remapped | Perfect | NC_000002.12:g.(?_ 204543090)_(205319 282_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 204,543,090 | 205,319,282 |
| nssv3459066 | Remapped | Perfect | NC_000002.11:g.(?_ 205407813)_(206184 006_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 205,407,813 | 206,184,006 |
| nssv3459066 | Submitted genomic | NC_000002.10:g.(?_ 205116058)_(205892 251_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 205,116,058 | 205,892,251 |