nsv1033797
- Organism: Homo sapiens
- Study:nstd100 (Coe et al. 2014)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:78,911
- 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: 991 SVs from 90 studies. See in: genome view
Overlapping variant regions from other studies: 991 SVs from 90 studies. See in: genome view
Overlapping variant regions from other studies: 371 SVs from 28 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1033797 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 4,136,454 | 4,215,364 |
| nsv1033797 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000008.10 | Chr8 | 3,993,976 | 4,072,886 |
| nsv1033797 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000008.9 | Chr8 | 3,981,384 | 4,060,294 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv3448762 | copy number loss | 9870440 | Oligo aCGH | Probe signal intensity | nssv3445639, nssv3451084, nssv3450692 |
| nssv3454565 | copy number loss | 9895823 | Oligo aCGH | Probe signal intensity | |
| nssv3454598 | copy number loss | 9882505 | Oligo aCGH | Probe signal intensity | nssv3472242 |
| nssv3455577 | copy number loss | 9865055 | Oligo aCGH | Probe signal intensity | 6 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv3448762 | Remapped | Perfect | NC_000008.11:g.(?_ 4136454)_(4215364_ ?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 4,136,454 | 4,215,364 |
| nssv3454565 | Remapped | Perfect | NC_000008.11:g.(?_ 4136454)_(4215364_ ?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 4,136,454 | 4,215,364 |
| nssv3454598 | Remapped | Perfect | NC_000008.11:g.(?_ 4136454)_(4215364_ ?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 4,136,454 | 4,215,364 |
| nssv3455577 | Remapped | Perfect | NC_000008.11:g.(?_ 4136454)_(4215364_ ?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 4,136,454 | 4,215,364 |
| nssv3448762 | Remapped | Perfect | NC_000008.10:g.(?_ 3993976)_(4072886_ ?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 3,993,976 | 4,072,886 |
| nssv3454565 | Remapped | Perfect | NC_000008.10:g.(?_ 3993976)_(4072886_ ?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 3,993,976 | 4,072,886 |
| nssv3454598 | Remapped | Perfect | NC_000008.10:g.(?_ 3993976)_(4072886_ ?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 3,993,976 | 4,072,886 |
| nssv3455577 | Remapped | Perfect | NC_000008.10:g.(?_ 3993976)_(4072886_ ?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 3,993,976 | 4,072,886 |
| nssv3448762 | Submitted genomic | NC_000008.9:g.(?_3 981384)_(4060294_? )del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 3,981,384 | 4,060,294 | ||
| nssv3454565 | Submitted genomic | NC_000008.9:g.(?_3 981384)_(4060294_? )del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 3,981,384 | 4,060,294 | ||
| nssv3454598 | Submitted genomic | NC_000008.9:g.(?_3 981384)_(4060294_? )del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 3,981,384 | 4,060,294 | ||
| nssv3455577 | Submitted genomic | NC_000008.9:g.(?_3 981384)_(4060294_? )del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 3,981,384 | 4,060,294 |