nsv480080
- Organism: Homo sapiens
- Study:nstd35 (Kidd et al. 2010)
- Variant Type:novel sequence insertion
- Method Type:Sequencing
- Variant is Defined by:GU267586
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:892
- 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: 2 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: 9 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 |
|---|---|---|---|---|---|---|---|---|
| nsv480080 | Remapped | Good | GRCh38.p12 | Primary Assembly | NT_187314.1 | Chr21|NT_1 87314.1 | 12,951 | 13,842 |
| nsv480080 | Remapped | Good | GRCh38.p12 | Primary Assembly | NT_187318.1 | Chr21|NT_1 87318.1 | 29,889 | 30,780 |
| nsv480080 | Remapped | Good | GRCh38.p12 | Primary Assembly | NT_187305.1 | Chr21|NT_1 87305.1 | 34,320 | 35,211 |
| nsv480080 | Remapped | Good | GRCh38.p12 | Primary Assembly | NT_187317.1 | Chr21|NT_1 87317.1 | 57,976 | 58,867 |
| nsv480080 | Remapped | Good | GRCh38.p12 | Primary Assembly | NT_187304.1 | Chr21|NT_1 87304.1 | 82,149 | 83,040 |
| nsv480080 | Remapped | Good | GRCh38.p12 | Primary Assembly | NT_187388.1 | Chr22|NT_1 87388.1 | 74,234 | 75,125 |
| nsv480080 | Remapped | Good | GRCh38.p12 | Primary Assembly | NT_167214.1 | Unplaced|N T_167214.1 | 57,306 | 58,187 |
| nsv480080 | Remapped | Good | GRCh37.p13 | Primary Assembly | NT_167214.1 | Unplaced|N T_167214.1 | 57,306 | 58,187 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv3019781 | 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 |
|---|---|---|---|---|---|---|---|---|
| nssv3019781 | Remapped | Good | NT_187304.1:g.8214 9_83040ins?NT_1873 05.1:g.34320_35211 ins?NT_187314.1:g. 12951_13842ins?NT_ 187317.1:g.57976_5 8867ins?NT_187318. 1:g.29889_30780ins ?NT_187388.1:g.742 34_75125ins?NT_167 214.1:g.57306_5818 7ins? | GRCh38.p12 | NT_187314.1 | Chr21|NT_1 87314.1 | 12,951 | 13,842 |
| nssv3019781 | Remapped | Good | NT_187304.1:g.8214 9_83040ins?NT_1873 05.1:g.34320_35211 ins?NT_187314.1:g. 12951_13842ins?NT_ 187317.1:g.57976_5 8867ins?NT_187318. 1:g.29889_30780ins ?NT_187388.1:g.742 34_75125ins?NT_167 214.1:g.57306_5818 7ins? | GRCh38.p12 | NT_187318.1 | Chr21|NT_1 87318.1 | 29,889 | 30,780 |
| nssv3019781 | Remapped | Good | NT_187304.1:g.8214 9_83040ins?NT_1873 05.1:g.34320_35211 ins?NT_187314.1:g. 12951_13842ins?NT_ 187317.1:g.57976_5 8867ins?NT_187318. 1:g.29889_30780ins ?NT_187388.1:g.742 34_75125ins?NT_167 214.1:g.57306_5818 7ins? | GRCh38.p12 | NT_187305.1 | Chr21|NT_1 87305.1 | 34,320 | 35,211 |
| nssv3019781 | Remapped | Good | NT_187304.1:g.8214 9_83040ins?NT_1873 05.1:g.34320_35211 ins?NT_187314.1:g. 12951_13842ins?NT_ 187317.1:g.57976_5 8867ins?NT_187318. 1:g.29889_30780ins ?NT_187388.1:g.742 34_75125ins?NT_167 214.1:g.57306_5818 7ins? | GRCh38.p12 | NT_187317.1 | Chr21|NT_1 87317.1 | 57,976 | 58,867 |
| nssv3019781 | Remapped | Good | NT_187304.1:g.8214 9_83040ins?NT_1873 05.1:g.34320_35211 ins?NT_187314.1:g. 12951_13842ins?NT_ 187317.1:g.57976_5 8867ins?NT_187318. 1:g.29889_30780ins ?NT_187388.1:g.742 34_75125ins?NT_167 214.1:g.57306_5818 7ins? | GRCh38.p12 | NT_187304.1 | Chr21|NT_1 87304.1 | 82,149 | 83,040 |
| nssv3019781 | Remapped | Good | NT_187304.1:g.8214 9_83040ins?NT_1873 05.1:g.34320_35211 ins?NT_187314.1:g. 12951_13842ins?NT_ 187317.1:g.57976_5 8867ins?NT_187318. 1:g.29889_30780ins ?NT_187388.1:g.742 34_75125ins?NT_167 214.1:g.57306_5818 7ins? | GRCh38.p12 | NT_187388.1 | Chr22|NT_1 87388.1 | 74,234 | 75,125 |
| nssv3019781 | Remapped | Good | NT_187304.1:g.8214 9_83040ins?NT_1873 05.1:g.34320_35211 ins?NT_187314.1:g. 12951_13842ins?NT_ 187317.1:g.57976_5 8867ins?NT_187318. 1:g.29889_30780ins ?NT_187388.1:g.742 34_75125ins?NT_167 214.1:g.57306_5818 7ins? | GRCh38.p12 | NT_167214.1 | Unplaced|N T_167214.1 | 57,306 | 58,187 |
| nssv3019781 | Remapped | Good | NT_167214.1:g.5730 6_58187ins? | GRCh37.p13 | NT_167214.1 | Unplaced|N T_167214.1 | 57,306 | 58,187 |