nsv819074
- Organism: Homo sapiens
- Study:nstd43 (Kim et al. 2009)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:18,754
- Publication(s):Kim et al. 2009
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: 237 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 246 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 80 SVs from 15 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv819074 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 16,840,746 | 16,859,499 |
| nsv819074 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000022.10 | Chr22 | 17,321,636 | 17,340,389 |
| nsv819074 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000022.9 | Chr22 | 15,701,636 | 15,720,389 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv1418676 | copy number gain | SAMN00002681 | Oligo aCGH | Probe signal intensity | 1,333 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv1418676 | Remapped | Perfect | NC_000022.11:g.(?_ 16840746)_(1685949 9_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 16,840,746 | 16,859,499 |
| nssv1418676 | Remapped | Perfect | NC_000022.10:g.(?_ 17321636)_(1734038 9_?)dup | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 17,321,636 | 17,340,389 |
| nssv1418676 | Submitted genomic | NC_000022.9:g.(?_1 5701636)_(15720389 _?)dup | NCBI36 (hg18) | NC_000022.9 | Chr22 | 15,701,636 | 15,720,389 |