nsv1003931
- 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:608,324
- 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: 1573 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 1573 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 366 SVs from 16 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1003931 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 18,239,952 | 18,848,275 |
| nsv1003931 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 18,241,575 | 18,849,898 |
| nsv1003931 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000004.10 | Chr4 | 17,850,673 | 18,458,996 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv3447128 | copy number loss | 9862447 | Oligo aCGH | Probe signal intensity | nssv3451446, nssv3477476 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv3447128 | Remapped | Perfect | NC_000004.12:g.(?_ 18239952)_(1884827 5_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 18,239,952 | 18,848,275 |
| nssv3447128 | Remapped | Perfect | NC_000004.11:g.(?_ 18241575)_(1884989 8_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 18,241,575 | 18,849,898 |
| nssv3447128 | Submitted genomic | NC_000004.10:g.(?_ 17850673)_(1845899 6_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 17,850,673 | 18,458,996 |