nsv820118
- 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:25,804
- 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: 686 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 689 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 292 SVs from 26 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv820118 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 169,252,685 | 169,278,488 |
| nsv820118 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 169,221,923 | 169,247,726 |
| nsv820118 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 167,488,547 | 167,514,350 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv1418702 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv1418702 | Remapped | Perfect | NC_000001.11:g.(?_ 169252685)_(169278 488_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 169,252,685 | 169,278,488 |
| nssv1418702 | Remapped | Perfect | NC_000001.10:g.(?_ 169221923)_(169247 726_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 169,221,923 | 169,247,726 |
| nssv1418702 | Submitted genomic | NC_000001.9:g.(?_1 67488547)_(1675143 50_?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 167,488,547 | 167,514,350 |