nsv513763
- Organism: Homo sapiens
- Study:nstd50 (Arlt et al. 2011)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:2,479
- Publication(s):Arlt et al. 2011
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: 441 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 437 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 10 SVs from 5 studies. See in: genome view
Overlapping variant regions from other studies: 196 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 | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv513763 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 50,206,846 | 50,209,324 |
| nsv513763 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000023.10 | ChrX | 49,971,497 | 49,973,975 |
| nsv513763 | Remapped | Perfect | GRCh37.p13 | PATCHES | Second Pass | NW_004070880.2 | ChrX|NW_00 4070880.2 | 2,396,275 | 2,398,753 |
| nsv513763 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000023.9 | ChrX | 49,858,237 | 49,860,715 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv627015 | insertion | 1 | Sequencing | Paired-end mapping | 2,637 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv627015 | Remapped | Perfect | NC_000023.11:g.(50 206846_?)_(?_50209 324)ins2479 | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 50,206,846 | 50,209,324 |
| nssv627015 | Remapped | Perfect | NW_004070880.2:g.( 2396275_?)_(?_2398 753)ins2479 | GRCh37.p13 | Second Pass | NW_004070880.2 | ChrX|NW_00 4070880.2 | 2,396,275 | 2,398,753 |
| nssv627015 | Remapped | Perfect | NC_000023.10:g.(49 971497_?)_(?_49973 975)ins2479 | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 49,971,497 | 49,973,975 |
| nssv627015 | Submitted genomic | NC_000023.9:g.(498 58237_?)_(?_498607 15)ins2479 | NCBI36 (hg18) | NC_000023.9 | ChrX | 49,858,237 | 49,860,715 |