nsv3109597
- 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:TSD=GGATCTTGCTTTTT;INTERNAL=NM_012105,INTRONIC
;MEINFO=AluYb8,0,281,- - 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: 287 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 288 SVs from 30 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3109597 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 41,271,238 | 41,271,238 |
| nsv3109597 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 42,643,165 | 42,643,165 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv14063844 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv14063844 | Remapped | Perfect | NC_000021.9:g.4127 1238_41271239ins28 1 | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 41,271,238 | 41,271,238 |
| nssv14063844 | Submitted genomic | NC_000021.8:g.4264 3165_42643166ins28 1 | GRCh37 (hg19) | NC_000021.8 | Chr21 | 42,643,165 | 42,643,165 |
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) |
|---|---|
| nssv14063844 | 0.02 |