nsv2820782
- Organism: Homo sapiens
- Study:nstd137 (Huddleston et al. 2016)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:11,361
- Publication(s):Huddleston et al. 2016
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: 398 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 395 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 28 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv2820782 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 76,141,880 | 76,153,240 | ||
| nsv2820782 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000023.10 | ChrX | 75,361,715 | 75,373,075 |
| nsv2820782 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871100.1 | ChrX|NW_00 3871100.1 | 161,300 | 172,660 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv13708558 | inversion | SAMN03255769 | Sequencing | Local sequence assembly | 46 |
| nssv13710597 | inversion | SAMN02744161 | Sequencing | Local sequence assembly | 47 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv13708558 | Submitted genomic | NC_000023.11:g.761 41880_76153240inv | GRCh38 (hg38) | NC_000023.11 | ChrX | 76,141,880 | 76,153,240 | ||
| nssv13710597 | Submitted genomic | NC_000023.11:g.761 41880_76153240inv | GRCh38 (hg38) | NC_000023.11 | ChrX | 76,141,880 | 76,153,240 | ||
| nssv13708558 | Remapped | Perfect | NW_003871100.1:g.1 61300_172660inv | GRCh37.p13 | First Pass | NW_003871100.1 | ChrX|NW_00 3871100.1 | 161,300 | 172,660 |
| nssv13710597 | Remapped | Perfect | NW_003871100.1:g.1 61300_172660inv | GRCh37.p13 | First Pass | NW_003871100.1 | ChrX|NW_00 3871100.1 | 161,300 | 172,660 |
| nssv13708558 | Remapped | Perfect | NC_000023.10:g.753 61715_75373075inv | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 75,361,715 | 75,373,075 |
| nssv13710597 | Remapped | Perfect | NC_000023.10:g.753 61715_75373075inv | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 75,361,715 | 75,373,075 |