nsv480354
- Organism: Homo sapiens
- Study:nstd35 (Kidd et al. 2010)
- Variant Type:novel sequence insertion
- Method Type:Sequencing
- Variant is Defined by:GU267860
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1,488
- 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: 5 SVs from 2 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|
| nsv480354 | Remapped | Good | GRCh38.p12 | Primary Assembly | NT_187311.1 | Chr21|NT_1 87311.1 | 155,091 | 156,577 |
| nsv480354 | Remapped | Good | GRCh38.p12 | Primary Assembly | NT_187304.1 | Chr21|NT_1 87304.1 | 29,562 | 31,048 |
| nsv480354 | Remapped | Good | GRCh38.p12 | Primary Assembly | NT_187317.1 | Chr21|NT_1 87317.1 | 5,388 | 6,874 |
| nsv480354 | Remapped | Good | GRCh38.p12 | Primary Assembly | NT_187314.1 | Chr21|NT_1 87314.1 | 64,944 | 66,430 |
| nsv480354 | Remapped | Good | GRCh38.p12 | Primary Assembly | NT_187388.1 | Chr22|NT_1 87388.1 | 21,639 | 23,125 |
| nsv480354 | Remapped | Good | GRCh38.p12 | Primary Assembly | NT_167214.1 | Unplaced|N T_167214.1 | 4,711 | 6,198 |
| nsv480354 | Remapped | Good | GRCh37.p13 | Primary Assembly | NT_167214.1 | Unplaced|N T_167214.1 | 4,711 | 6,198 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv3020239 | 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 |
|---|---|---|---|---|---|---|---|---|
| nssv3020239 | Remapped | Good | NT_187304.1:g.2956 2_31048ins?NT_1873 11.1:g.155091_1565 77ins?NT_187314.1: g.64944_66430ins?N T_187317.1:g.5388_ 6874ins?NT_187388. 1:g.21639_23125ins ?NT_167214.1:g.471 1_6198ins? | GRCh38.p12 | NT_187317.1 | Chr21|NT_1 87317.1 | 5,388 | 6,874 |
| nssv3020239 | Remapped | Good | NT_187304.1:g.2956 2_31048ins?NT_1873 11.1:g.155091_1565 77ins?NT_187314.1: g.64944_66430ins?N T_187317.1:g.5388_ 6874ins?NT_187388. 1:g.21639_23125ins ?NT_167214.1:g.471 1_6198ins? | GRCh38.p12 | NT_187304.1 | Chr21|NT_1 87304.1 | 29,562 | 31,048 |
| nssv3020239 | Remapped | Good | NT_187304.1:g.2956 2_31048ins?NT_1873 11.1:g.155091_1565 77ins?NT_187314.1: g.64944_66430ins?N T_187317.1:g.5388_ 6874ins?NT_187388. 1:g.21639_23125ins ?NT_167214.1:g.471 1_6198ins? | GRCh38.p12 | NT_187314.1 | Chr21|NT_1 87314.1 | 64,944 | 66,430 |
| nssv3020239 | Remapped | Good | NT_187304.1:g.2956 2_31048ins?NT_1873 11.1:g.155091_1565 77ins?NT_187314.1: g.64944_66430ins?N T_187317.1:g.5388_ 6874ins?NT_187388. 1:g.21639_23125ins ?NT_167214.1:g.471 1_6198ins? | GRCh38.p12 | NT_187311.1 | Chr21|NT_1 87311.1 | 155,091 | 156,577 |
| nssv3020239 | Remapped | Good | NT_187304.1:g.2956 2_31048ins?NT_1873 11.1:g.155091_1565 77ins?NT_187314.1: g.64944_66430ins?N T_187317.1:g.5388_ 6874ins?NT_187388. 1:g.21639_23125ins ?NT_167214.1:g.471 1_6198ins? | GRCh38.p12 | NT_187388.1 | Chr22|NT_1 87388.1 | 21,639 | 23,125 |
| nssv3020239 | Remapped | Good | NT_187304.1:g.2956 2_31048ins?NT_1873 11.1:g.155091_1565 77ins?NT_187314.1: g.64944_66430ins?N T_187317.1:g.5388_ 6874ins?NT_187388. 1:g.21639_23125ins ?NT_167214.1:g.471 1_6198ins? | GRCh38.p12 | NT_167214.1 | Unplaced|N T_167214.1 | 4,711 | 6,198 |
| nssv3020239 | Remapped | Good | NT_167214.1:g.4711 _6198ins? | GRCh37.p13 | NT_167214.1 | Unplaced|N T_167214.1 | 4,711 | 6,198 |