nsv5174370
- 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:1
- 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: 131 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 125 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 11 SVs from 8 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5174370 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000019.10 | Chr19 | 41,807,204 | 41,807,204 | ||
| nsv5174370 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000019.9 | Chr19 | 42,311,242 | 42,311,242 |
| nsv5174370 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004775434.1 | Chr19|NW_0 04775434.1 | 376,243 | 376,243 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16730467 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv16730467 | Submitted genomic | NC_000019.10:g.418 07204_41807205ins1 53 | GRCh38 (hg38) | NC_000019.10 | Chr19 | 41,807,204 | 41,807,204 | ||
| nssv16730467 | Remapped | Perfect | NW_004775434.1:g.3 76243_376244ins153 | GRCh37.p13 | First Pass | NW_004775434.1 | Chr19|NW_0 04775434.1 | 376,243 | 376,243 |
| nssv16730467 | Remapped | Perfect | NC_000019.9:g.4231 1242_42311243ins15 3 | GRCh37.p13 | Second Pass | NC_000019.9 | Chr19 | 42,311,242 | 42,311,242 |
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) |
|---|---|
| nssv16730467 | 0.34 |