nsv933018
- Organism: Homo sapiens
- Study:nstd80 (Boone et al. 2013)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:200,946
- 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: 613 SVs from 67 studies. See in: genome view
Overlapping variant regions from other studies: 613 SVs from 67 studies. See in: genome view
Overlapping variant regions from other studies: 185 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv933018 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 33,466,713 | 33,667,658 |
| nsv933018 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 33,506,325 | 33,707,270 |
| nsv933018 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 33,472,850 | 33,673,795 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis |
|---|---|---|---|---|
| nssv1613013 | deletion | 2518 | Oligo aCGH | Probe signal intensity |
| nssv1616072 | deletion | 2399 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv1613013 | Remapped | Perfect | NC_000007.14:g.(33 449826_33466713)_( 33667658_33682676) del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 33,449,826 | 33,466,713 | 33,667,658 | 33,682,676 |
| nssv1616072 | Remapped | Perfect | NC_000007.14:g.(33 449826_33466713)_( 33667658_33682676) del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 33,449,826 | 33,466,713 | 33,667,658 | 33,682,676 |
| nssv1613013 | Remapped | Perfect | NC_000007.13:g.(33 489438_33506325)_( 33707270_33722288) del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 33,489,438 | 33,506,325 | 33,707,270 | 33,722,288 |
| nssv1616072 | Remapped | Perfect | NC_000007.13:g.(33 489438_33506325)_( 33707270_33722288) del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 33,489,438 | 33,506,325 | 33,707,270 | 33,722,288 |
| nssv1613013 | Submitted genomic | NC_000007.12:g.(33 455963_33472850)_( 33673795_33688813) del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 33,455,963 | 33,472,850 | 33,673,795 | 33,688,813 | ||
| nssv1616072 | Submitted genomic | NC_000007.12:g.(33 455963_33472850)_( 33673795_33688813) del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 33,455,963 | 33,472,850 | 33,673,795 | 33,688,813 |