nsv820237
- 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:16,460
- 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: 158 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 158 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 51 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv820237 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 68,415,569 | 68,432,028 |
| nsv820237 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000008.10 | Chr8 | 69,327,804 | 69,344,263 |
| nsv820237 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000008.9 | Chr8 | 69,490,358 | 69,506,817 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv1418662 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv1418662 | Remapped | Perfect | NC_000008.11:g.(?_ 68415569)_(6843202 8_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 68,415,569 | 68,432,028 |
| nssv1418662 | Remapped | Perfect | NC_000008.10:g.(?_ 69327804)_(6934426 3_?)dup | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 69,327,804 | 69,344,263 |
| nssv1418662 | Submitted genomic | NC_000008.9:g.(?_6 9490358)_(69506817 _?)dup | NCBI36 (hg18) | NC_000008.9 | Chr8 | 69,490,358 | 69,506,817 |