nsv481228
- Organism: Homo sapiens
- Study:nstd35 (Kidd et al. 2010)
- Variant Type:novel sequence insertion
- Method Type:Sequencing
- Variant is Defined by:GU268734
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1,132
- 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: 10 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 |
---|---|---|---|---|---|---|---|---|
nsv481228 | Remapped | Pass | GRCh38.p12 | Primary Assembly | NT_187318.1 | Chr21|NT_1 87318.1 | 66,530 | 67,657 |
nsv481228 | Remapped | Pass | GRCh38.p12 | Primary Assembly | NT_187317.1 | Chr21|NT_1 87317.1 | 94,617 | 95,744 |
nsv481228 | Remapped | Pass | GRCh38.p12 | Primary Assembly | NT_187388.1 | Chr22|NT_1 87388.1 | 110,694 | 111,821 |
nsv481228 | Remapped | Pass | GRCh38.p12 | Primary Assembly | NT_167214.1 | Unplaced|N T_167214.1 | 93,961 | 95,092 |
nsv481228 | Remapped | Pass | GRCh37.p13 | Primary Assembly | NT_167214.1 | Unplaced|N T_167214.1 | 93,961 | 95,092 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv3012299 | 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 |
---|---|---|---|---|---|---|---|---|
nssv3012299 | Remapped | Pass | NT_187317.1:g.9461 7_95744ins?NT_1873 18.1:g.66530_67657 ins?NT_187388.1:g. 110694_111821ins?N T_167214.1:g.93961 _95092ins? | GRCh38.p12 | NT_187318.1 | Chr21|NT_1 87318.1 | 66,530 | 67,657 |
nssv3012299 | Remapped | Pass | NT_187317.1:g.9461 7_95744ins?NT_1873 18.1:g.66530_67657 ins?NT_187388.1:g. 110694_111821ins?N T_167214.1:g.93961 _95092ins? | GRCh38.p12 | NT_187317.1 | Chr21|NT_1 87317.1 | 94,617 | 95,744 |
nssv3012299 | Remapped | Pass | NT_187317.1:g.9461 7_95744ins?NT_1873 18.1:g.66530_67657 ins?NT_187388.1:g. 110694_111821ins?N T_167214.1:g.93961 _95092ins? | GRCh38.p12 | NT_187388.1 | Chr22|NT_1 87388.1 | 110,694 | 111,821 |
nssv3012299 | Remapped | Pass | NT_187317.1:g.9461 7_95744ins?NT_1873 18.1:g.66530_67657 ins?NT_187388.1:g. 110694_111821ins?N T_167214.1:g.93961 _95092ins? | GRCh38.p12 | NT_167214.1 | Unplaced|N T_167214.1 | 93,961 | 95,092 |
nssv3012299 | Remapped | Pass | NT_167214.1:g.9396 1_95092ins? | GRCh37.p13 | NT_167214.1 | Unplaced|N T_167214.1 | 93,961 | 95,092 |