nsv819469
- 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:18,026
- 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: 189 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 189 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 60 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv819469 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 29,132,528 | 29,150,553 |
| nsv819469 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 29,285,461 | 29,303,486 |
| nsv819469 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000012.10 | Chr12 | 29,176,728 | 29,194,753 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv1418672 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv1418672 | Remapped | Perfect | NC_000012.12:g.(?_ 29132528)_(2915055 3_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 29,132,528 | 29,150,553 |
| nssv1418672 | Remapped | Perfect | NC_000012.11:g.(?_ 29285461)_(2930348 6_?)dup | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 29,285,461 | 29,303,486 |
| nssv1418672 | Submitted genomic | NC_000012.10:g.(?_ 29176728)_(2919475 3_?)dup | NCBI36 (hg18) | NC_000012.10 | Chr12 | 29,176,728 | 29,194,753 |