nsv3413296
- Organism: Homo sapiens
- Study:nstd162 (Audano et al. 2019)
- Variant Type:mobile element insertion
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:3
- 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: 413 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 403 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 14 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3413296 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 53,967,177 | 53,967,177 | ||
| nsv3413296 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000023.10 | ChrX | 53,993,610 | 53,993,610 |
| nsv3413296 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004070877.1 | ChrX|NW_00 4070877.1 | 3,680,292 | 3,680,292 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14800956 | sva insertion | SAMN03255769 | Sequencing | de novo and local sequence assembly | 21,134 |
| nssv14810512 | sva insertion | SAMN06885952 | Sequencing | de novo and local sequence assembly | 28,070 |
| nssv14810837 | sva insertion | SAMN05603745 | Sequencing | de novo and local sequence assembly | 27,447 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14800956 | Submitted genomic | NC_000023.11:g.539 67177_53967178ins1 27 | GRCh38 (hg38) | NC_000023.11 | ChrX | 53,967,177 | 53,967,177 | ||
| nssv14810512 | Submitted genomic | NC_000023.11:g.539 67177_53967178ins1 27 | GRCh38 (hg38) | NC_000023.11 | ChrX | 53,967,177 | 53,967,177 | ||
| nssv14810837 | Submitted genomic | NC_000023.11:g.539 67177_53967178ins1 27 | GRCh38 (hg38) | NC_000023.11 | ChrX | 53,967,177 | 53,967,177 | ||
| nssv14800956 | Remapped | Perfect | NW_004070877.1:g.3 680292_3680293ins1 27NW_004070877.1:g .3680292_3680293in s127 | GRCh37.p13 | First Pass | NW_004070877.1 | ChrX|NW_00 4070877.1 | 3,680,292 | 3,680,292 |
| nssv14810512 | Remapped | Perfect | NW_004070877.1:g.3 680292_3680293ins1 27NW_004070877.1:g .3680292_3680293in s127 | GRCh37.p13 | First Pass | NW_004070877.1 | ChrX|NW_00 4070877.1 | 3,680,292 | 3,680,292 |
| nssv14810837 | Remapped | Perfect | NW_004070877.1:g.3 680292_3680293ins1 27NW_004070877.1:g .3680292_3680293in s127 | GRCh37.p13 | First Pass | NW_004070877.1 | ChrX|NW_00 4070877.1 | 3,680,292 | 3,680,292 |
| nssv14800956 | Remapped | Perfect | NC_000023.10:g.539 93610_53993611ins1 27NC_000023.10:g.5 3993610_53993611in s127 | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 53,993,610 | 53,993,610 |
| nssv14810512 | Remapped | Perfect | NC_000023.10:g.539 93610_53993611ins1 27NC_000023.10:g.5 3993610_53993611in s127 | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 53,993,610 | 53,993,610 |
| nssv14810837 | Remapped | Perfect | NC_000023.10:g.539 93610_53993611ins1 27NC_000023.10:g.5 3993610_53993611in s127 | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 53,993,610 | 53,993,610 |