nsv1196134
- Organism: Homo sapiens
- Study:nstd113 (Polyak et al. 2015)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:305,706
- Publication(s):Polyak et al. 2015
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: 1386 SVs from 90 studies. See in: genome view
Overlapping variant regions from other studies: 1386 SVs from 90 studies. See in: genome view
Overlapping variant regions from other studies: 449 SVs from 28 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1196134 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 167,078,101 | 167,383,806 |
| nsv1196134 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 167,491,589 | 167,797,294 |
| nsv1196134 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 167,411,579 | 167,717,284 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv7467028 | copy number gain | 23229 | Oligo aCGH | Probe signal intensity | nssv7459902, nssv7466989 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv7467028 | Remapped | Perfect | NC_000006.12:g.(?_ 167078101)_(167383 806_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 167,078,101 | 167,383,806 |
| nssv7467028 | Remapped | Perfect | NC_000006.11:g.(?_ 167491589)_(167797 294_?)dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 167,491,589 | 167,797,294 |
| nssv7467028 | Submitted genomic | NC_000006.10:g.(?_ 167411579)_(167717 284_?)dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 167,411,579 | 167,717,284 |