nsv5123194
- Organism: Homo sapiens
- Study:nstd203 (Borges-Monroy et al. 2021)
- Variant Type:mobile element insertion
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:13
- Publication(s):Borges-Monroy et al. 2021
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: 111 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 106 SVs from 18 studies. See in: genome view
Overlapping variant regions from other studies: 8 SVs from 5 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5123194 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000011.10 | Chr11 | 118,598,040 | 118,598,052 | ||
| nsv5123194 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000011.9 | Chr11 | 118,468,755 | 118,468,767 |
| nsv5123194 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871072.2 | Chr11|NW_0 03871072.2 | 223,478 | 223,490 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16687593 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv16687593 | Submitted genomic | NC_000011.10:g.118 598040_118598052in s193 | GRCh38 (hg38) | NC_000011.10 | Chr11 | 118,598,040 | 118,598,052 | ||
| nssv16687593 | Remapped | Perfect | NW_003871072.2:g.2 23478_223490ins193 | GRCh37.p13 | First Pass | NW_003871072.2 | Chr11|NW_0 03871072.2 | 223,478 | 223,490 |
| nssv16687593 | Remapped | Perfect | NC_000011.9:g.1184 68755_118468767ins 193 | GRCh37.p13 | Second Pass | NC_000011.9 | Chr11 | 118,468,755 | 118,468,767 |
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) |
|---|---|
| nssv16687593 | 0.433 |