nsv5666818
- Organism: Homo sapiens
- Study:nstd207 (Ebert et al. 2021)
- Variant Type:inversion
- Method Type:Optical mapping, Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:33,656
- Publication(s):Ebert et al. 2021
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: 514 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 502 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 53 SVs from 18 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5666818 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 153,294,977 | 153,328,632 | ||
| nsv5666818 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000023.10 | ChrX | 152,560,435 | 152,594,090 |
| nsv5666818 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871103.3 | ChrX|NW_00 3871103.3 | 728,960 | 762,615 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv17166282 | inversion | SAMN00001229 | Optical mapping, Sequencing | Optical mapping, Sequence alignment | 1,149 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17166282 | Submitted genomic | NC_000023.11:g.153 294977_153328632in v | GRCh38 (hg38) | NC_000023.11 | ChrX | 153,294,977 | 153,328,632 | ||
| nssv17166282 | Remapped | Perfect | NW_003871103.3:g.7 28960_762615inv | GRCh37.p13 | First Pass | NW_003871103.3 | ChrX|NW_00 3871103.3 | 728,960 | 762,615 |
| nssv17166282 | Remapped | Perfect | NC_000023.10:g.152 560435_152594090in v | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 152,560,435 | 152,594,090 |