nsv819449
- 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:184,906
- 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: 961 SVs from 90 studies. See in: genome view
Overlapping variant regions from other studies: 961 SVs from 90 studies. See in: genome view
Overlapping variant regions from other studies: 358 SVs from 29 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv819449 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 167,887,477 | 168,072,382 |
| nsv819449 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 168,808,628 | 168,993,533 |
| nsv819449 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000004.10 | Chr4 | 169,045,203 | 169,230,108 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv1418789 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv1418789 | Remapped | Perfect | NC_000004.12:g.(?_ 167887477)_(168072 382_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 167,887,477 | 168,072,382 |
| nssv1418789 | Remapped | Perfect | NC_000004.11:g.(?_ 168808628)_(168993 533_?)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 168,808,628 | 168,993,533 |
| nssv1418789 | Submitted genomic | NC_000004.10:g.(?_ 169045203)_(169230 108_?)dup | NCBI36 (hg18) | NC_000004.10 | Chr4 | 169,045,203 | 169,230,108 |