nsv819547
- 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:39,918
- 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: 792 SVs from 76 studies. See in: genome view
Overlapping variant regions from other studies: 792 SVs from 76 studies. See in: genome view
Overlapping variant regions from other studies: 287 SVs from 28 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv819547 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 122,579,409 | 122,619,326 |
| nsv819547 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000010.10 | Chr10 | 124,338,925 | 124,378,842 |
| nsv819547 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000010.9 | Chr10 | 124,328,915 | 124,368,832 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv1418731 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv1418731 | Remapped | Perfect | NC_000010.11:g.(?_ 122579409)_(122619 326_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 122,579,409 | 122,619,326 |
| nssv1418731 | Remapped | Perfect | NC_000010.10:g.(?_ 124338925)_(124378 842_?)dup | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 124,338,925 | 124,378,842 |
| nssv1418731 | Submitted genomic | NC_000010.9:g.(?_1 24328915)_(1243688 32_?)dup | NCBI36 (hg18) | NC_000010.9 | Chr10 | 124,328,915 | 124,368,832 |