nsv1059696
- Organism: Homo sapiens
- Study:nstd100 (Coe et al. 2014)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:77,414
- Publication(s):Coe et al. 2014
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: 670 SVs from 52 studies. See in: genome view
Overlapping variant regions from other studies: 670 SVs from 52 studies. See in: genome view
Overlapping variant regions from other studies: 273 SVs from 16 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1059696 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000018.10 | Chr18 | 3,494,893 | 3,572,306 |
| nsv1059696 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000018.9 | Chr18 | 3,494,891 | 3,572,304 |
| nsv1059696 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000018.8 | Chr18 | 3,484,891 | 3,562,304 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv3564069 | copy number gain | SNP array | Probe signal intensity |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv3564069 | Remapped | Perfect | NC_000018.10:g.(?_ 3494893)_(3572306_ ?)dup | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 3,494,893 | 3,572,306 |
| nssv3564069 | Remapped | Perfect | NC_000018.9:g.(?_3 494891)_(3572304_? )dup | GRCh37.p13 | First Pass | NC_000018.9 | Chr18 | 3,494,891 | 3,572,304 |
| nssv3564069 | Submitted genomic | NC_000018.8:g.(?_3 484891)_(3562304_? )dup | NCBI36 (hg18) | NC_000018.8 | Chr18 | 3,484,891 | 3,562,304 |