nsv3097050
- 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:6,076
- 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: 266 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 266 SVs from 50 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3097050 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 83,637,233 | 83,643,308 |
| nsv3097050 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 83,670,838 | 83,676,913 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv14050400 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv14050400 | Remapped | Perfect | NC_000016.10:g.836 37233_83643308del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 83,637,233 | 83,643,308 |
| nssv14050400 | Submitted genomic | NC_000016.9:g.8367 0838_83676913del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 83,670,838 | 83,676,913 |