nsv480200
- Organism: Homo sapiens
- Study:nstd35 (Kidd et al. 2010)
- Variant Type:novel sequence insertion
- Method Type:Sequencing
- Variant is Defined by:GU267705
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1,093
- 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: 15 SVs from 4 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|
nsv480200 | Remapped | Good | GRCh38.p12 | Primary Assembly | NT_187318.1 | Chr21|NT_1 87318.1 | 71,501 | 72,593 |
nsv480200 | Remapped | Good | GRCh38.p12 | Primary Assembly | NT_187317.1 | Chr21|NT_1 87317.1 | 99,588 | 100,680 |
nsv480200 | Remapped | Good | GRCh38.p12 | Primary Assembly | NT_187388.1 | Chr22|NT_1 87388.1 | 115,664 | 116,756 |
nsv480200 | Remapped | Good | GRCh37.p13 | Primary Assembly | NT_167214.1 | Unplaced|N T_167214.1 | 98,928 | 100,020 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv3016583 | 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 |
---|---|---|---|---|---|---|---|---|
nssv3016583 | Remapped | Good | NT_187317.1:g.9958 8_100680ins?NT_187 318.1:g.71501_7259 3ins?NT_187388.1:g .115664_116756ins? | GRCh38.p12 | NT_187318.1 | Chr21|NT_1 87318.1 | 71,501 | 72,593 |
nssv3016583 | Remapped | Good | NT_187317.1:g.9958 8_100680ins?NT_187 318.1:g.71501_7259 3ins?NT_187388.1:g .115664_116756ins? | GRCh38.p12 | NT_187317.1 | Chr21|NT_1 87317.1 | 99,588 | 100,680 |
nssv3016583 | Remapped | Good | NT_187317.1:g.9958 8_100680ins?NT_187 318.1:g.71501_7259 3ins?NT_187388.1:g .115664_116756ins? | GRCh38.p12 | NT_187388.1 | Chr22|NT_1 87388.1 | 115,664 | 116,756 |
nssv3016583 | Remapped | Good | NT_167214.1:g.9892 8_100020ins? | GRCh37.p13 | NT_167214.1 | Unplaced|N T_167214.1 | 98,928 | 100,020 |