nsv819850
- 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:80,270
- 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: 227 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 227 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 70 SVs from 14 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv819850 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 22,792,087 | 22,872,356 |
| nsv819850 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 23,014,959 | 23,095,228 |
| nsv819850 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 22,868,464 | 22,948,733 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv1418760 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv1418760 | Remapped | Perfect | NC_000002.12:g.(?_ 22792087)_(2287235 6_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 22,792,087 | 22,872,356 |
| nssv1418760 | Remapped | Perfect | NC_000002.11:g.(?_ 23014959)_(2309522 8_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 23,014,959 | 23,095,228 |
| nssv1418760 | Submitted genomic | NC_000002.10:g.(?_ 22868464)_(2294873 3_?)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 22,868,464 | 22,948,733 |