nsv481002
- Organism: Homo sapiens
- Study:nstd35 (Kidd et al. 2010)
- Variant Type:novel sequence insertion
- Method Type:Sequencing
- Variant is Defined by:GU268508
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:881
- Description:This variant by definition has no placement. It represents a contig assembled from multiple read pairs, no part of which could be mapped to assembly NCBI35.
- Publication(s):Kidd et al. 2010
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: 1 SVs from 1 studies. See in: genome view
Overlapping variant regions from other studies: 2 SVs from 2 studies. See in: genome view
Overlapping variant regions from other studies: 20 SVs from 7 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|
| nsv481002 | Remapped | Pass | GRCh38.p12 | Primary Assembly | NT_187317.1 | Chr21|NT_1 87317.1 | 101,861 | 102,740 |
| nsv481002 | Remapped | Pass | GRCh38.p12 | Primary Assembly | NT_187318.1 | Chr21|NT_1 87318.1 | 73,775 | 74,655 |
| nsv481002 | Remapped | Pass | GRCh38.p12 | Primary Assembly | NT_187388.1 | Chr22|NT_1 87388.1 | 117,937 | 118,817 |
| nsv481002 | Remapped | Pass | GRCh38.p12 | Primary Assembly | NT_167214.1 | Unplaced|N T_167214.1 | 101,204 | 102,079 |
| nsv481002 | Remapped | Pass | GRCh37.p13 | Primary Assembly | NT_167214.1 | Unplaced|N T_167214.1 | 101,204 | 102,079 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv3011224 | novel sequence insertion | Sequencing | One end anchored assembly |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|
| nssv3011224 | Remapped | Pass | NT_187317.1:g.1018 61_102740ins?NT_18 7318.1:g.73775_746 55ins?NT_187388.1: g.117937_118817ins ?NT_167214.1:g.101 204_102079ins? | GRCh38.p12 | NT_187318.1 | Chr21|NT_1 87318.1 | 73,775 | 74,655 |
| nssv3011224 | Remapped | Pass | NT_187317.1:g.1018 61_102740ins?NT_18 7318.1:g.73775_746 55ins?NT_187388.1: g.117937_118817ins ?NT_167214.1:g.101 204_102079ins? | GRCh38.p12 | NT_187317.1 | Chr21|NT_1 87317.1 | 101,861 | 102,740 |
| nssv3011224 | Remapped | Pass | NT_187317.1:g.1018 61_102740ins?NT_18 7318.1:g.73775_746 55ins?NT_187388.1: g.117937_118817ins ?NT_167214.1:g.101 204_102079ins? | GRCh38.p12 | NT_187388.1 | Chr22|NT_1 87388.1 | 117,937 | 118,817 |
| nssv3011224 | Remapped | Pass | NT_187317.1:g.1018 61_102740ins?NT_18 7318.1:g.73775_746 55ins?NT_187388.1: g.117937_118817ins ?NT_167214.1:g.101 204_102079ins? | GRCh38.p12 | NT_167214.1 | Unplaced|N T_167214.1 | 101,204 | 102,079 |
| nssv3011224 | Remapped | Pass | NT_167214.1:g.1012 04_102079ins? | GRCh37.p13 | NT_167214.1 | Unplaced|N T_167214.1 | 101,204 | 102,079 |