nsv5669327
- 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:358,221
- 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: 1157 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 1143 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 355 SVs from 36 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5669327 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 141,114,595 | 141,472,815 | ||
| nsv5669327 | Remapped | Good | GRCh37.p13 | Primary Assembly | Second Pass | NC_000023.10 | ChrX | 140,208,780 | 140,560,809 |
| nsv5669327 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004070888.1 | ChrX|NW_00 4070888.1 | 210,398 | 568,618 |
Variant Call Information
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17165370 | Submitted genomic | NC_000023.11:g.141 114595_141472815in v | GRCh38 (hg38) | NC_000023.11 | ChrX | 141,114,595 | 141,472,815 | ||
| nssv17165370 | Remapped | Perfect | NW_004070888.1:g.2 10398_568618inv | GRCh37.p13 | First Pass | NW_004070888.1 | ChrX|NW_00 4070888.1 | 210,398 | 568,618 |
| nssv17165370 | Remapped | Good | NC_000023.10:g.140 208780_140560809in v | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 140,208,780 | 140,560,809 |