nsv3086224
- 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:306
- Description:Absence of a AluY 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: 124 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 124 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3086224 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 81,946,450 | 81,946,755 |
| nsv3086224 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 81,242,269 | 81,242,574 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv14063478 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv14063478 | Remapped | Perfect | NC_000005.10:g.819 46450_81946755del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 81,946,450 | 81,946,755 |
| nssv14063478 | Submitted genomic | NC_000005.9:g.8124 2269_81242574del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 81,242,269 | 81,242,574 |