nsv820083
- 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:8,693
- 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: 387 SVs from 65 studies. See in: genome view
Overlapping variant regions from other studies: 387 SVs from 65 studies. See in: genome view
Overlapping variant regions from other studies: 205 SVs from 23 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv820083 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 74,446,233 | 74,454,925 |
| nsv820083 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000008.10 | Chr8 | 75,358,468 | 75,367,160 |
| nsv820083 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000008.9 | Chr8 | 75,521,023 | 75,529,715 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv1419879 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv1419879 | Remapped | Perfect | NC_000008.11:g.(?_ 74446233)_(7445492 5_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 74,446,233 | 74,454,925 |
| nssv1419879 | Remapped | Perfect | NC_000008.10:g.(?_ 75358468)_(7536716 0_?)dup | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 75,358,468 | 75,367,160 |
| nssv1419879 | Submitted genomic | NC_000008.9:g.(?_7 5521023)_(75529715 _?)dup | NCBI36 (hg18) | NC_000008.9 | Chr8 | 75,521,023 | 75,529,715 |