nsv3320561
- Organism: Homo sapiens
- Study:nstd162 (Audano et al. 2019)
- Variant Type:mobile element deletion
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:6,106
- Description:Absence of a L1 insertion that is present in the reference
- Publication(s):Audano et al. 2019
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: 530 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 16 SVs from 5 studies. See in: genome view
Overlapping variant regions from other studies: 51 SVs from 21 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3320561 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 146,717,120 | 146,723,225 | ||
| nsv3320561 | Remapped | Good | GRCh37.p13 | Primary Assembly | Second Pass | NT_167207.1 | Chr1|NT_16 7207.1 | 231,788 | 237,895 |
| nsv3320561 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 3,532,533 | 3,538,638 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14751658 | line1 deletion | SAMN04229552 | Sequencing | de novo and local sequence assembly | 24,632 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14751658 | Submitted genomic | NC_000001.11:g.146 717120_146723225de l | GRCh38 (hg38) | NC_000001.11 | Chr1 | 146,717,120 | 146,723,225 | ||
| nssv14751658 | Remapped | Good | NT_167207.1:g.2317 88_237895delNT_167 207.1:g.231788_237 895del | GRCh37.p13 | Second Pass | NT_167207.1 | Chr1|NT_16 7207.1 | 231,788 | 237,895 |
| nssv14751658 | Remapped | Perfect | NW_003871055.3:g.3 532533_3538638delN W_003871055.3:g.35 32533_3538638del | GRCh37.p13 | First Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 3,532,533 | 3,538,638 |