nsv3418804
- 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: 430 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 430 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 2 SVs from 2 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3418804 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 46,847,777 | 46,847,777 | ||
| nsv3418804 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000023.10 | ChrX | 46,707,212 | 46,707,212 |
| nsv3418804 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004166866.1 | ChrX|NW_00 4166866.1 | 97,338 | 97,338 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14793811 | insertion | SAMN09651199 | Sequencing | de novo and local sequence assembly | 27,381 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14793811 | Submitted genomic | NC_000023.11:g.468 47777_46847778ins5 2 | GRCh38 (hg38) | NC_000023.11 | ChrX | 46,847,777 | 46,847,777 | ||
| nssv14793811 | Remapped | Perfect | NW_004166866.1:g.9 7338_97339ins52NW_ 004166866.1:g.9733 8_97339ins52 | GRCh37.p13 | First Pass | NW_004166866.1 | ChrX|NW_00 4166866.1 | 97,338 | 97,338 |
| nssv14793811 | Remapped | Perfect | NC_000023.10:g.467 07212_46707213ins5 2NC_000023.10:g.46 707212_46707213ins 52 | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 46,707,212 | 46,707,212 |