nsv5672209
- 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:58,138
- 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: 1344 SVs from 75 studies. See in: genome view
Overlapping variant regions from other studies: 1344 SVs from 75 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5672209 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000008.11 | Chr8 | 974,942 (-4317, +4317) | 1,033,079 (-18826, +18826) | ||
| nsv5672209 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000008.10 | Chr8 | 924,942 (-4317, +4317) | 983,079 (-18826, +18826) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17148882 | inversion | Optical mapping, Sequencing | Optical mapping, Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17148882 | Submitted genomic | NC_000008.11:g.(97 0625_979259)_(1014 253_1051905)inv | GRCh38 (hg38) | NC_000008.11 | Chr8 | 974,942 (-4317, +4317) | 1,033,079 (-18826, +18826) | ||
| nssv17148882 | Remapped | Perfect | NC_000008.10:g.(92 0625_929259)_(9642 53_1001905)inv | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 924,942 (-4317, +4317) | 983,079 (-18826, +18826) |