nsv3086394
- Organism: Homo sapiens
- Study:nstd144 (Gardner et al. 2017)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:6,048
- Description:Absence of a L1HS mobile element insertion that is present in the reference
- Publication(s):Gardner et al. 2017
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: 186 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 186 SVs from 53 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3086394 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 128,998,383 | 129,004,430 |
| nsv3086394 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 129,319,528 | 129,325,575 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv14054042 | line1 deletion | Sequencing | Split read and paired-end mapping |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14054042 | Remapped | Perfect | NC_000006.12:g.128 998383_129004430de l | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 128,998,383 | 129,004,430 |
| nssv14054042 | Submitted genomic | NC_000006.11:g.129 319528_129325575de l | GRCh37 (hg19) | NC_000006.11 | Chr6 | 129,319,528 | 129,325,575 |