nsv3101040
- 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:339
- Description:Absence of a AluYa5 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: 246 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 246 SVs from 35 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3101040 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000018.10 | Chr18 | 34,753,344 | 34,753,682 |
| nsv3101040 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000018.9 | Chr18 | 32,333,308 | 32,333,646 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv14056876 | alu 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv14056876 | Remapped | Perfect | NC_000018.10:g.347 53344_34753682del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 34,753,344 | 34,753,682 |
| nssv14056876 | Submitted genomic | NC_000018.9:g.3233 3308_32333646del | GRCh37 (hg19) | NC_000018.9 | Chr18 | 32,333,308 | 32,333,646 |