nsv481530
- Organism: Homo sapiens
- Study:nstd35 (Kidd et al. 2010)
- Variant Type:novel sequence insertion
- Method Type:Sequencing
- Variant is Defined by:GU269036
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:954
- 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 |
---|---|---|---|---|---|---|---|---|
nsv481530 | Remapped | Good | GRCh38.p12 | Primary Assembly | NT_187311.1 | Chr21|NT_1 87311.1 | 152,098 | 153,051 |
nsv481530 | Remapped | Good | GRCh38.p12 | Primary Assembly | NT_187317.1 | Chr21|NT_1 87317.1 | 2,395 | 3,348 |
nsv481530 | Remapped | Good | GRCh38.p12 | Primary Assembly | NT_187304.1 | Chr21|NT_1 87304.1 | 26,569 | 27,522 |
nsv481530 | Remapped | Good | GRCh38.p12 | Primary Assembly | NT_187314.1 | Chr21|NT_1 87314.1 | 68,470 | 69,423 |
nsv481530 | Remapped | Good | GRCh38.p12 | Primary Assembly | NT_187388.1 | Chr22|NT_1 87388.1 | 18,631 | 19,584 |
nsv481530 | Remapped | Good | GRCh38.p12 | Primary Assembly | NT_167214.1 | Unplaced|N T_167214.1 | 1,718 | 2,671 |
nsv481530 | Remapped | Good | GRCh37.p13 | Primary Assembly | NT_167214.1 | Unplaced|N T_167214.1 | 1,718 | 2,671 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv3017014 | 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 |
---|---|---|---|---|---|---|---|---|
nssv3017014 | Remapped | Good | NT_187304.1:g.2656 9_27522ins?NT_1873 11.1:g.152098_1530 51ins?NT_187314.1: g.68470_69423ins?N T_187317.1:g.2395_ 3348ins?NT_187388. 1:g.18631_19584ins ?NT_167214.1:g.171 8_2671ins? | GRCh38.p12 | NT_187317.1 | Chr21|NT_1 87317.1 | 2,395 | 3,348 |
nssv3017014 | Remapped | Good | NT_187304.1:g.2656 9_27522ins?NT_1873 11.1:g.152098_1530 51ins?NT_187314.1: g.68470_69423ins?N T_187317.1:g.2395_ 3348ins?NT_187388. 1:g.18631_19584ins ?NT_167214.1:g.171 8_2671ins? | GRCh38.p12 | NT_187304.1 | Chr21|NT_1 87304.1 | 26,569 | 27,522 |
nssv3017014 | Remapped | Good | NT_187304.1:g.2656 9_27522ins?NT_1873 11.1:g.152098_1530 51ins?NT_187314.1: g.68470_69423ins?N T_187317.1:g.2395_ 3348ins?NT_187388. 1:g.18631_19584ins ?NT_167214.1:g.171 8_2671ins? | GRCh38.p12 | NT_187314.1 | Chr21|NT_1 87314.1 | 68,470 | 69,423 |
nssv3017014 | Remapped | Good | NT_187304.1:g.2656 9_27522ins?NT_1873 11.1:g.152098_1530 51ins?NT_187314.1: g.68470_69423ins?N T_187317.1:g.2395_ 3348ins?NT_187388. 1:g.18631_19584ins ?NT_167214.1:g.171 8_2671ins? | GRCh38.p12 | NT_187311.1 | Chr21|NT_1 87311.1 | 152,098 | 153,051 |
nssv3017014 | Remapped | Good | NT_187304.1:g.2656 9_27522ins?NT_1873 11.1:g.152098_1530 51ins?NT_187314.1: g.68470_69423ins?N T_187317.1:g.2395_ 3348ins?NT_187388. 1:g.18631_19584ins ?NT_167214.1:g.171 8_2671ins? | GRCh38.p12 | NT_187388.1 | Chr22|NT_1 87388.1 | 18,631 | 19,584 |
nssv3017014 | Remapped | Good | NT_187304.1:g.2656 9_27522ins?NT_1873 11.1:g.152098_1530 51ins?NT_187314.1: g.68470_69423ins?N T_187317.1:g.2395_ 3348ins?NT_187388. 1:g.18631_19584ins ?NT_167214.1:g.171 8_2671ins? | GRCh38.p12 | NT_167214.1 | Unplaced|N T_167214.1 | 1,718 | 2,671 |
nssv3017014 | Remapped | Good | NT_167214.1:g.1718 _2671ins? | GRCh37.p13 | NT_167214.1 | Unplaced|N T_167214.1 | 1,718 | 2,671 |