nsv933243
- Organism: Homo sapiens
- Study:nstd80 (Boone et al. 2013)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:522,725
- Publication(s):Boone et al. 2013
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: 2462 SVs from 103 studies. See in: genome view
Overlapping variant regions from other studies: 2462 SVs from 103 studies. See in: genome view
Overlapping variant regions from other studies: 680 SVs from 29 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv933243 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 161,579,948 | 162,102,672 |
| nsv933243 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 162,000,980 | 162,523,704 |
| nsv933243 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 161,920,970 | 162,443,694 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis |
|---|---|---|---|---|
| nssv1614077 | deletion | 48 | Oligo aCGH | Probe signal intensity |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv1614077 | Remapped | Perfect | NC_000006.12:g.(16 1563738_161579948) _(162102672_162102 678)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 161,563,738 | 161,579,948 | 162,102,672 | 162,102,678 |
| nssv1614077 | Remapped | Perfect | NC_000006.11:g.(16 1984770_162000980) _(162523704_162523 710)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 161,984,770 | 162,000,980 | 162,523,704 | 162,523,710 |
| nssv1614077 | Submitted genomic | NC_000006.10:g.(16 1904760_161920970) _(162443694_162443 700)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 161,904,760 | 161,920,970 | 162,443,694 | 162,443,700 |