nsv481108
- Organism: Homo sapiens
- Study:nstd35 (Kidd et al. 2010)
- Variant Type:novel sequence insertion
- Method Type:Sequencing
- Variant is Defined by:GU268615
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:2,707
- 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 |
|---|---|---|---|---|---|---|---|---|
| nsv481108 | Remapped | Good | GRCh38.p12 | Primary Assembly | NT_187314.1 | Chr21|NT_1 87314.1 | 12,808 | 15,514 |
| nsv481108 | Remapped | Good | GRCh38.p12 | Primary Assembly | NT_187318.1 | Chr21|NT_1 87318.1 | 28,217 | 30,923 |
| nsv481108 | Remapped | Good | GRCh38.p12 | Primary Assembly | NT_187305.1 | Chr21|NT_1 87305.1 | 32,648 | 35,354 |
| nsv481108 | Remapped | Good | GRCh38.p12 | Primary Assembly | NT_187317.1 | Chr21|NT_1 87317.1 | 56,304 | 59,010 |
| nsv481108 | Remapped | Good | GRCh38.p12 | Primary Assembly | NT_187304.1 | Chr21|NT_1 87304.1 | 80,477 | 83,183 |
| nsv481108 | Remapped | Good | GRCh38.p12 | Primary Assembly | NT_187388.1 | Chr22|NT_1 87388.1 | 72,562 | 75,268 |
| nsv481108 | Remapped | Good | GRCh38.p12 | Primary Assembly | NT_167214.1 | Unplaced|N T_167214.1 | 55,634 | 58,330 |
| nsv481108 | Remapped | Good | GRCh37.p13 | Primary Assembly | NT_167214.1 | Unplaced|N T_167214.1 | 55,634 | 58,330 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv3013835 | 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 |
|---|---|---|---|---|---|---|---|---|
| nssv3013835 | Remapped | Good | NT_187304.1:g.8047 7_83183ins?NT_1873 05.1:g.32648_35354 ins?NT_187314.1:g. 12808_15514ins?NT_ 187317.1:g.56304_5 9010ins?NT_187318. 1:g.28217_30923ins ?NT_187388.1:g.725 62_75268ins?NT_167 214.1:g.55634_5833 0ins? | GRCh38.p12 | NT_187314.1 | Chr21|NT_1 87314.1 | 12,808 | 15,514 |
| nssv3013835 | Remapped | Good | NT_187304.1:g.8047 7_83183ins?NT_1873 05.1:g.32648_35354 ins?NT_187314.1:g. 12808_15514ins?NT_ 187317.1:g.56304_5 9010ins?NT_187318. 1:g.28217_30923ins ?NT_187388.1:g.725 62_75268ins?NT_167 214.1:g.55634_5833 0ins? | GRCh38.p12 | NT_187318.1 | Chr21|NT_1 87318.1 | 28,217 | 30,923 |
| nssv3013835 | Remapped | Good | NT_187304.1:g.8047 7_83183ins?NT_1873 05.1:g.32648_35354 ins?NT_187314.1:g. 12808_15514ins?NT_ 187317.1:g.56304_5 9010ins?NT_187318. 1:g.28217_30923ins ?NT_187388.1:g.725 62_75268ins?NT_167 214.1:g.55634_5833 0ins? | GRCh38.p12 | NT_187305.1 | Chr21|NT_1 87305.1 | 32,648 | 35,354 |
| nssv3013835 | Remapped | Good | NT_187304.1:g.8047 7_83183ins?NT_1873 05.1:g.32648_35354 ins?NT_187314.1:g. 12808_15514ins?NT_ 187317.1:g.56304_5 9010ins?NT_187318. 1:g.28217_30923ins ?NT_187388.1:g.725 62_75268ins?NT_167 214.1:g.55634_5833 0ins? | GRCh38.p12 | NT_187317.1 | Chr21|NT_1 87317.1 | 56,304 | 59,010 |
| nssv3013835 | Remapped | Good | NT_187304.1:g.8047 7_83183ins?NT_1873 05.1:g.32648_35354 ins?NT_187314.1:g. 12808_15514ins?NT_ 187317.1:g.56304_5 9010ins?NT_187318. 1:g.28217_30923ins ?NT_187388.1:g.725 62_75268ins?NT_167 214.1:g.55634_5833 0ins? | GRCh38.p12 | NT_187304.1 | Chr21|NT_1 87304.1 | 80,477 | 83,183 |
| nssv3013835 | Remapped | Good | NT_187304.1:g.8047 7_83183ins?NT_1873 05.1:g.32648_35354 ins?NT_187314.1:g. 12808_15514ins?NT_ 187317.1:g.56304_5 9010ins?NT_187318. 1:g.28217_30923ins ?NT_187388.1:g.725 62_75268ins?NT_167 214.1:g.55634_5833 0ins? | GRCh38.p12 | NT_187388.1 | Chr22|NT_1 87388.1 | 72,562 | 75,268 |
| nssv3013835 | Remapped | Good | NT_187304.1:g.8047 7_83183ins?NT_1873 05.1:g.32648_35354 ins?NT_187314.1:g. 12808_15514ins?NT_ 187317.1:g.56304_5 9010ins?NT_187318. 1:g.28217_30923ins ?NT_187388.1:g.725 62_75268ins?NT_167 214.1:g.55634_5833 0ins? | GRCh38.p12 | NT_167214.1 | Unplaced|N T_167214.1 | 55,634 | 58,330 |
| nssv3013835 | Remapped | Good | NT_167214.1:g.5563 4_58330ins? | GRCh37.p13 | NT_167214.1 | Unplaced|N T_167214.1 | 55,634 | 58,330 |