nsv3418805
- Organism: Homo sapiens
- Study:nstd162 (Audano et al. 2019)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- Publication(s):Audano et al. 2019
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: 453 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 449 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 39 SVs from 13 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3418805 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 148,196,155 | 148,196,155 | ||
| nsv3418805 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000023.10 | ChrX | 147,277,675 | 147,277,675 |
| nsv3418805 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004070890.2 | ChrX|NW_00 4070890.2 | 3,720,548 | 3,720,548 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14794478 | insertion | SAMN06885952 | Sequencing | de novo and local sequence assembly | 28,070 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14794478 | Submitted genomic | NC_000023.11:g.148 196155_148196156in s66 | GRCh38 (hg38) | NC_000023.11 | ChrX | 148,196,155 | 148,196,155 | ||
| nssv14794478 | Remapped | Perfect | NW_004070890.2:g.3 720548_3720549ins6 6NW_004070890.2:g. 3720548_3720549ins 66 | GRCh37.p13 | First Pass | NW_004070890.2 | ChrX|NW_00 4070890.2 | 3,720,548 | 3,720,548 |
| nssv14794478 | Remapped | Perfect | NC_000023.10:g.147 277675_147277676in s66NC_000023.10:g. 147277675_14727767 6ins66 | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 147,277,675 | 147,277,675 |