nsv1194481
- 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:368,418
- 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: 1002 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 1002 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 322 SVs from 17 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1194481 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 169,371,753 | 169,740,170 |
| nsv1194481 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 170,292,904 | 170,661,321 |
| nsv1194481 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000004.10 | Chr4 | 170,529,479 | 170,897,896 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv7469193 | copy number gain | 17489 | Oligo aCGH | Probe signal intensity | nssv7459619, nssv7469805 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv7469193 | Remapped | Perfect | NC_000004.12:g.(?_ 169371753)_(169740 170_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 169,371,753 | 169,740,170 |
| nssv7469193 | Remapped | Perfect | NC_000004.11:g.(?_ 170292904)_(170661 321_?)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 170,292,904 | 170,661,321 |
| nssv7469193 | Submitted genomic | NC_000004.10:g.(?_ 170529479)_(170897 896_?)dup | NCBI36 (hg18) | NC_000004.10 | Chr4 | 170,529,479 | 170,897,896 |