nsv479916
- Organism: Homo sapiens
- Study:nstd35 (Kidd et al. 2010)
- Variant Type:novel sequence insertion
- Method Type:Sequencing
- Variant is Defined by:GU267422
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1,382
- 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: 1 SVs from 1 studies. See in: genome view
Overlapping variant regions from other studies: 8 SVs from 3 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|
| nsv479916 | Remapped | Good | GRCh38.p12 | Primary Assembly | NT_187318.1 | Chr21|NT_1 87318.1 | 31,788 | 33,169 |
| nsv479916 | Remapped | Good | GRCh38.p12 | Primary Assembly | NT_187305.1 | Chr21|NT_1 87305.1 | 36,219 | 37,600 |
| nsv479916 | Remapped | Good | GRCh38.p12 | Primary Assembly | NT_187317.1 | Chr21|NT_1 87317.1 | 59,875 | 61,256 |
| nsv479916 | Remapped | Good | GRCh38.p12 | Primary Assembly | NT_187304.1 | Chr21|NT_1 87304.1 | 84,048 | 85,429 |
| nsv479916 | Remapped | Good | GRCh38.p12 | Primary Assembly | NT_187388.1 | Chr22|NT_1 87388.1 | 76,133 | 77,514 |
| nsv479916 | Remapped | Good | GRCh38.p12 | Primary Assembly | NT_167214.1 | Unplaced|N T_167214.1 | 59,195 | 60,576 |
| nsv479916 | Remapped | Good | GRCh37.p13 | Primary Assembly | NT_167214.1 | Unplaced|N T_167214.1 | 59,195 | 60,576 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv3014438 | 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 |
|---|---|---|---|---|---|---|---|---|
| nssv3014438 | Remapped | Good | NT_187304.1:g.8404 8_85429ins?NT_1873 05.1:g.36219_37600 ins?NT_187317.1:g. 59875_61256ins?NT_ 187318.1:g.31788_3 3169ins?NT_187388. 1:g.76133_77514ins ?NT_167214.1:g.591 95_60576ins? | GRCh38.p12 | NT_187318.1 | Chr21|NT_1 87318.1 | 31,788 | 33,169 |
| nssv3014438 | Remapped | Good | NT_187304.1:g.8404 8_85429ins?NT_1873 05.1:g.36219_37600 ins?NT_187317.1:g. 59875_61256ins?NT_ 187318.1:g.31788_3 3169ins?NT_187388. 1:g.76133_77514ins ?NT_167214.1:g.591 95_60576ins? | GRCh38.p12 | NT_187305.1 | Chr21|NT_1 87305.1 | 36,219 | 37,600 |
| nssv3014438 | Remapped | Good | NT_187304.1:g.8404 8_85429ins?NT_1873 05.1:g.36219_37600 ins?NT_187317.1:g. 59875_61256ins?NT_ 187318.1:g.31788_3 3169ins?NT_187388. 1:g.76133_77514ins ?NT_167214.1:g.591 95_60576ins? | GRCh38.p12 | NT_187317.1 | Chr21|NT_1 87317.1 | 59,875 | 61,256 |
| nssv3014438 | Remapped | Good | NT_187304.1:g.8404 8_85429ins?NT_1873 05.1:g.36219_37600 ins?NT_187317.1:g. 59875_61256ins?NT_ 187318.1:g.31788_3 3169ins?NT_187388. 1:g.76133_77514ins ?NT_167214.1:g.591 95_60576ins? | GRCh38.p12 | NT_187304.1 | Chr21|NT_1 87304.1 | 84,048 | 85,429 |
| nssv3014438 | Remapped | Good | NT_187304.1:g.8404 8_85429ins?NT_1873 05.1:g.36219_37600 ins?NT_187317.1:g. 59875_61256ins?NT_ 187318.1:g.31788_3 3169ins?NT_187388. 1:g.76133_77514ins ?NT_167214.1:g.591 95_60576ins? | GRCh38.p12 | NT_187388.1 | Chr22|NT_1 87388.1 | 76,133 | 77,514 |
| nssv3014438 | Remapped | Good | NT_187304.1:g.8404 8_85429ins?NT_1873 05.1:g.36219_37600 ins?NT_187317.1:g. 59875_61256ins?NT_ 187318.1:g.31788_3 3169ins?NT_187388. 1:g.76133_77514ins ?NT_167214.1:g.591 95_60576ins? | GRCh38.p12 | NT_167214.1 | Unplaced|N T_167214.1 | 59,195 | 60,576 |
| nssv3014438 | Remapped | Good | NT_167214.1:g.5919 5_60576ins? | GRCh37.p13 | NT_167214.1 | Unplaced|N T_167214.1 | 59,195 | 60,576 |