nsv1003820
- 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:542,430
- 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: 1713 SVs from 92 studies. See in: genome view
Overlapping variant regions from other studies: 1713 SVs from 92 studies. See in: genome view
Overlapping variant regions from other studies: 530 SVs from 25 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1003820 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 163,415,667 | 163,958,096 |
| nsv1003820 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000003.11 | Chr3 | 163,133,455 | 163,675,884 |
| nsv1003820 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 164,616,149 | 165,158,578 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv3446311 | copy number loss | 9902279 | Oligo aCGH | Probe signal intensity | nssv3470252 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv3446311 | Remapped | Perfect | NC_000003.12:g.(?_ 163415667)_(163958 096_?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 163,415,667 | 163,958,096 |
| nssv3446311 | Remapped | Perfect | NC_000003.11:g.(?_ 163133455)_(163675 884_?)del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 163,133,455 | 163,675,884 |
| nssv3446311 | Submitted genomic | NC_000003.10:g.(?_ 164616149)_(165158 578_?)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 164,616,149 | 165,158,578 |