nsv5665408
- 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:322,685
- 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: 1240 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 1235 SVs from 57 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5665408 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 155,708,210 | 156,030,894 | ||
| nsv5665408 | Remapped | Good | GRCh37.p13 | Primary Assembly | First Pass | NC_000023.10 | ChrX | 154,937,871 | 155,260,559 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv17166333 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv17166333 | Submitted genomic | NC_000023.11:g.155 708210_156030894in v | GRCh38 (hg38) | NC_000023.11 | ChrX | 155,708,210 | 156,030,894 | ||
| nssv17166333 | Remapped | Good | NC_000023.10:g.154 937871_155260559in v | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 154,937,871 | 155,260,559 |