nsv481552
- Organism: Homo sapiens
- Study:nstd35 (Kidd et al. 2010)
- Variant Type:novel sequence insertion
- Method Type:Sequencing
- Variant is Defined by:GU269057
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:864
- 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: 4 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 |
|---|---|---|---|---|---|---|---|---|
| nsv481552 | Remapped | Good | GRCh38.p12 | Primary Assembly | NT_187311.1 | Chr21|NT_1 87311.1 | 158,875 | 159,736 |
| nsv481552 | Remapped | Good | GRCh38.p12 | Primary Assembly | NT_187304.1 | Chr21|NT_1 87304.1 | 33,346 | 34,208 |
| nsv481552 | Remapped | Good | GRCh38.p12 | Primary Assembly | NT_187314.1 | Chr21|NT_1 87314.1 | 61,784 | 62,646 |
| nsv481552 | Remapped | Good | GRCh38.p12 | Primary Assembly | NT_187317.1 | Chr21|NT_1 87317.1 | 9,172 | 10,034 |
| nsv481552 | Remapped | Good | GRCh38.p12 | Primary Assembly | NT_187388.1 | Chr22|NT_1 87388.1 | 25,418 | 26,279 |
| nsv481552 | Remapped | Good | GRCh38.p12 | Primary Assembly | NT_167214.1 | Unplaced|N T_167214.1 | 8,492 | 9,355 |
| nsv481552 | Remapped | Good | GRCh37.p13 | Primary Assembly | NT_167214.1 | Unplaced|N T_167214.1 | 8,492 | 9,355 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv3019610 | 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 |
|---|---|---|---|---|---|---|---|---|
| nssv3019610 | Remapped | Good | NT_187304.1:g.3334 6_34208ins?NT_1873 11.1:g.158875_1597 36ins?NT_187314.1: g.61784_62646ins?N T_187317.1:g.9172_ 10034ins?NT_187388 .1:g.25418_26279in s?NT_167214.1:g.84 92_9355ins? | GRCh38.p12 | NT_187317.1 | Chr21|NT_1 87317.1 | 9,172 | 10,034 |
| nssv3019610 | Remapped | Good | NT_187304.1:g.3334 6_34208ins?NT_1873 11.1:g.158875_1597 36ins?NT_187314.1: g.61784_62646ins?N T_187317.1:g.9172_ 10034ins?NT_187388 .1:g.25418_26279in s?NT_167214.1:g.84 92_9355ins? | GRCh38.p12 | NT_187304.1 | Chr21|NT_1 87304.1 | 33,346 | 34,208 |
| nssv3019610 | Remapped | Good | NT_187304.1:g.3334 6_34208ins?NT_1873 11.1:g.158875_1597 36ins?NT_187314.1: g.61784_62646ins?N T_187317.1:g.9172_ 10034ins?NT_187388 .1:g.25418_26279in s?NT_167214.1:g.84 92_9355ins? | GRCh38.p12 | NT_187314.1 | Chr21|NT_1 87314.1 | 61,784 | 62,646 |
| nssv3019610 | Remapped | Good | NT_187304.1:g.3334 6_34208ins?NT_1873 11.1:g.158875_1597 36ins?NT_187314.1: g.61784_62646ins?N T_187317.1:g.9172_ 10034ins?NT_187388 .1:g.25418_26279in s?NT_167214.1:g.84 92_9355ins? | GRCh38.p12 | NT_187311.1 | Chr21|NT_1 87311.1 | 158,875 | 159,736 |
| nssv3019610 | Remapped | Good | NT_187304.1:g.3334 6_34208ins?NT_1873 11.1:g.158875_1597 36ins?NT_187314.1: g.61784_62646ins?N T_187317.1:g.9172_ 10034ins?NT_187388 .1:g.25418_26279in s?NT_167214.1:g.84 92_9355ins? | GRCh38.p12 | NT_187388.1 | Chr22|NT_1 87388.1 | 25,418 | 26,279 |
| nssv3019610 | Remapped | Good | NT_187304.1:g.3334 6_34208ins?NT_1873 11.1:g.158875_1597 36ins?NT_187314.1: g.61784_62646ins?N T_187317.1:g.9172_ 10034ins?NT_187388 .1:g.25418_26279in s?NT_167214.1:g.84 92_9355ins? | GRCh38.p12 | NT_167214.1 | Unplaced|N T_167214.1 | 8,492 | 9,355 |
| nssv3019610 | Remapped | Good | NT_167214.1:g.8492 _9355ins? | GRCh37.p13 | NT_167214.1 | Unplaced|N T_167214.1 | 8,492 | 9,355 |