nsv3109551
- Organism: Homo sapiens
- Study:nstd144 (Gardner et al. 2017)
- Variant Type:mobile element insertion
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- Description:
INTERNAL=NM_005492,PROMOTER;MEINFO=AluYa3_3,1,280,+ - 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: 129 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 129 SVs from 27 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3109551 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 23,490,811 | 23,490,811 |
| nsv3109551 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 23,471,448 | 23,471,448 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv14074558 | alu insertion | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv14074558 | Remapped | Perfect | NC_000020.11:g.234 90811_23490812ins2 79 | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 23,490,811 | 23,490,811 |
| nssv14074558 | Submitted genomic | NC_000020.10:g.234 71448_23471449ins2 79 | GRCh37 (hg19) | NC_000020.10 | Chr20 | 23,471,448 | 23,471,448 |
No validation data were submitted for this variant
No clinical assertion data were submitted for this variant
Genotype Information
| Variant Call ID | Allele Frequency (AF) |
|---|---|
| nssv14074558 | <0.001 |