nsv5669703
- 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:61,682
- 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: 703 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 705 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 92 SVs from 29 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5669703 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 103,988,652 | 104,050,333 | ||
| nsv5669703 | Remapped | Good | GRCh37.p13 | Primary Assembly | Second Pass | NC_000023.10 | ChrX | 103,243,228 | 103,304,899 |
| nsv5669703 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004070885.1 | ChrX|NW_00 4070885.1 | 125,068 | 186,749 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv17165186 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv17165186 | Submitted genomic | NC_000023.11:g.103 988652_104050333in v | GRCh38 (hg38) | NC_000023.11 | ChrX | 103,988,652 | 104,050,333 | ||
| nssv17165186 | Remapped | Perfect | NW_004070885.1:g.1 25068_186749inv | GRCh37.p13 | First Pass | NW_004070885.1 | ChrX|NW_00 4070885.1 | 125,068 | 186,749 |
| nssv17165186 | Remapped | Good | NC_000023.10:g.103 243228_103304899in v | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 103,243,228 | 103,304,899 |