nsv1066135
- Organism: Homo sapiens
- Study:nstd100 (Coe et al. 2014)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:8,361,144
- 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: 37932 SVs from 130 studies. See in: genome view
Overlapping variant regions from other studies: 35766 SVs from 131 studies. See in: genome view
Overlapping variant regions from other studies: 10428 SVs from 41 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1066135 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 50,211,064 | 58,572,207 |
| nsv1066135 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000019.9 | Chr19 | 50,714,321 | 59,083,574 |
| nsv1066135 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000019.8 | Chr19 | 55,406,133 | 63,775,386 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv3473156 | copy number gain | 9898547 | Oligo aCGH | Probe signal intensity | nssv3445503, nssv3448097, nssv3481967 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv3473156 | Remapped | Good | NC_000019.10:g.(?_ 50211064)_(5857220 7_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 50,211,064 | 58,572,207 |
| nssv3473156 | Remapped | Perfect | NC_000019.9:g.(?_5 0714321)_(59083574 _?)dup | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 50,714,321 | 59,083,574 |
| nssv3473156 | Submitted genomic | NC_000019.8:g.(?_5 5406133)_(63775386 _?)dup | NCBI36 (hg18) | NC_000019.8 | Chr19 | 55,406,133 | 63,775,386 |