nsv5664863
- 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:40,824
- 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: 567 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 558 SVs from 42 studies. See in: genome view
Overlapping variant regions from other studies: 79 SVs from 24 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5664863 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 149,681,277 | 149,722,100 | ||
| nsv5664863 | Remapped | Good | GRCh37.p13 | Primary Assembly | Second Pass | NC_000023.10 | ChrX | 148,762,945 | 148,803,760 |
| nsv5664863 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004070890.2 | ChrX|NW_00 4070890.2 | 5,205,675 | 5,246,498 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv17165921 | inversion | SAMN00006579 | Optical mapping, Sequencing | Optical mapping, Sequence alignment | 23,265 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17165921 | Submitted genomic | NC_000023.11:g.149 681277_149722100in v | GRCh38 (hg38) | NC_000023.11 | ChrX | 149,681,277 | 149,722,100 | ||
| nssv17165921 | Remapped | Perfect | NW_004070890.2:g.5 205675_5246498inv | GRCh37.p13 | First Pass | NW_004070890.2 | ChrX|NW_00 4070890.2 | 5,205,675 | 5,246,498 |
| nssv17165921 | Remapped | Good | NC_000023.10:g.148 762945_148803760in v | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 148,762,945 | 148,803,760 |