nsv819358
- 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:35,374
- 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: 278 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 278 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 81 SVs from 15 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv819358 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 22,775,794 | 22,811,167 |
| nsv819358 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000014.8 | Chr14 | 23,245,003 | 23,280,376 |
| nsv819358 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000014.7 | Chr14 | 22,314,843 | 22,350,216 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv1418720 | copy number loss | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv1418720 | Remapped | Perfect | NC_000014.9:g.(?_2 2775794)_(22811167 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 22,775,794 | 22,811,167 |
| nssv1418720 | Remapped | Perfect | NC_000014.8:g.(?_2 3245003)_(23280376 _?)del | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 23,245,003 | 23,280,376 |
| nssv1418720 | Submitted genomic | NC_000014.7:g.(?_2 2314843)_(22350216 _?)del | NCBI36 (hg18) | NC_000014.7 | Chr14 | 22,314,843 | 22,350,216 |