nsv5621700
- Organism: Homo sapiens
- Study:nstd207 (Ebert et al. 2021)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- 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: 187 SVs from 42 studies. See in: genome view
Overlapping variant regions from other studies: 189 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 42 SVs from 15 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5621700 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 206,056,877 | 206,056,877 | ||
| nsv5621700 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000001.10 | Chr1 | 206,284,494 | 206,284,494 |
| nsv5621700 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871057.1 | Chr1|NW_00 3871057.1 | 47,731 | 47,731 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv17062741 | insertion | SAMN00016965 | Sequencing | Sequence alignment | 1,475 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17062741 | Submitted genomic | NC_000001.11:g.206 056877_206056878in s5913 | GRCh38 (hg38) | NC_000001.11 | Chr1 | 206,056,877 | 206,056,877 | ||
| nssv17062741 | Remapped | Perfect | NW_003871057.1:g.4 7731_47732ins5913 | GRCh37.p13 | First Pass | NW_003871057.1 | Chr1|NW_00 3871057.1 | 47,731 | 47,731 |
| nssv17062741 | Remapped | Perfect | NC_000001.10:g.206 284494_206284495in s5913 | GRCh37.p13 | Second Pass | NC_000001.10 | Chr1 | 206,284,494 | 206,284,494 |