nsv480651
- Organism: Homo sapiens
- Study:nstd35 (Kidd et al. 2010)
- Variant Type:novel sequence insertion
- Method Type:Sequencing
- Variant is Defined by:GU268156
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1,876
- 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: 6 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 |
|---|---|---|---|---|---|---|---|---|
| nsv480651 | Remapped | Good | GRCh38.p12 | Primary Assembly | NT_187311.1 | Chr21|NT_1 87311.1 | 159,302 | 161,177 |
| nsv480651 | Remapped | Good | GRCh38.p12 | Primary Assembly | NT_187304.1 | Chr21|NT_1 87304.1 | 33,774 | 35,649 |
| nsv480651 | Remapped | Good | GRCh38.p12 | Primary Assembly | NT_187314.1 | Chr21|NT_1 87314.1 | 60,343 | 62,218 |
| nsv480651 | Remapped | Good | GRCh38.p12 | Primary Assembly | NT_187317.1 | Chr21|NT_1 87317.1 | 9,600 | 11,475 |
| nsv480651 | Remapped | Good | GRCh38.p12 | Primary Assembly | NT_187388.1 | Chr22|NT_1 87388.1 | 25,845 | 27,718 |
| nsv480651 | Remapped | Good | GRCh38.p12 | Primary Assembly | NT_167214.1 | Unplaced|N T_167214.1 | 8,921 | 10,795 |
| nsv480651 | Remapped | Good | GRCh37.p13 | Primary Assembly | NT_167214.1 | Unplaced|N T_167214.1 | 8,921 | 10,795 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv3011850 | 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 |
|---|---|---|---|---|---|---|---|---|
| nssv3011850 | Remapped | Good | NT_187304.1:g.3377 4_35649ins?NT_1873 11.1:g.159302_1611 77ins?NT_187314.1: g.60343_62218ins?N T_187317.1:g.9600_ 11475ins?NT_187388 .1:g.25845_27718in s?NT_167214.1:g.89 21_10795ins? | GRCh38.p12 | NT_187317.1 | Chr21|NT_1 87317.1 | 9,600 | 11,475 |
| nssv3011850 | Remapped | Good | NT_187304.1:g.3377 4_35649ins?NT_1873 11.1:g.159302_1611 77ins?NT_187314.1: g.60343_62218ins?N T_187317.1:g.9600_ 11475ins?NT_187388 .1:g.25845_27718in s?NT_167214.1:g.89 21_10795ins? | GRCh38.p12 | NT_187304.1 | Chr21|NT_1 87304.1 | 33,774 | 35,649 |
| nssv3011850 | Remapped | Good | NT_187304.1:g.3377 4_35649ins?NT_1873 11.1:g.159302_1611 77ins?NT_187314.1: g.60343_62218ins?N T_187317.1:g.9600_ 11475ins?NT_187388 .1:g.25845_27718in s?NT_167214.1:g.89 21_10795ins? | GRCh38.p12 | NT_187314.1 | Chr21|NT_1 87314.1 | 60,343 | 62,218 |
| nssv3011850 | Remapped | Good | NT_187304.1:g.3377 4_35649ins?NT_1873 11.1:g.159302_1611 77ins?NT_187314.1: g.60343_62218ins?N T_187317.1:g.9600_ 11475ins?NT_187388 .1:g.25845_27718in s?NT_167214.1:g.89 21_10795ins? | GRCh38.p12 | NT_187311.1 | Chr21|NT_1 87311.1 | 159,302 | 161,177 |
| nssv3011850 | Remapped | Good | NT_187304.1:g.3377 4_35649ins?NT_1873 11.1:g.159302_1611 77ins?NT_187314.1: g.60343_62218ins?N T_187317.1:g.9600_ 11475ins?NT_187388 .1:g.25845_27718in s?NT_167214.1:g.89 21_10795ins? | GRCh38.p12 | NT_187388.1 | Chr22|NT_1 87388.1 | 25,845 | 27,718 |
| nssv3011850 | Remapped | Good | NT_187304.1:g.3377 4_35649ins?NT_1873 11.1:g.159302_1611 77ins?NT_187314.1: g.60343_62218ins?N T_187317.1:g.9600_ 11475ins?NT_187388 .1:g.25845_27718in s?NT_167214.1:g.89 21_10795ins? | GRCh38.p12 | NT_167214.1 | Unplaced|N T_167214.1 | 8,921 | 10,795 |
| nssv3011850 | Remapped | Good | NT_167214.1:g.8921 _10795ins? | GRCh37.p13 | NT_167214.1 | Unplaced|N T_167214.1 | 8,921 | 10,795 |