nsv3418747
- Organism: Homo sapiens
- Study:nstd162 (Audano et al. 2019)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:5
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- Publication(s):Audano et al. 2019
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: 214 SVs from 44 studies. See in: genome view
Overlapping variant regions from other studies: 214 SVs from 44 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3418747 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 3,977,112 | 3,977,112 | ||
| nsv3418747 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 4,016,744 | 4,016,744 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14735532 | insertion | SAMN09651199 | Sequencing | de novo and local sequence assembly | 27,381 |
| nssv14736204 | insertion | SAMN09643900 | Sequencing | de novo and local sequence assembly | 26,631 |
| nssv14736459 | insertion | SAMN05603745 | Sequencing | de novo and local sequence assembly | 27,447 |
| nssv14745903 | insertion | SAMN05603729 | Sequencing | de novo and local sequence assembly | 24,108 |
| nssv14746528 | insertion | SAMN06885952 | Sequencing | de novo and local sequence assembly | 28,070 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14735532 | Submitted genomic | NC_000007.14:g.397 7112_3977113ins157 9 | GRCh38 (hg38) | NC_000007.14 | Chr7 | 3,977,112 | 3,977,112 | ||
| nssv14736204 | Submitted genomic | NC_000007.14:g.397 7112_3977113ins157 9 | GRCh38 (hg38) | NC_000007.14 | Chr7 | 3,977,112 | 3,977,112 | ||
| nssv14736459 | Submitted genomic | NC_000007.14:g.397 7112_3977113ins157 9 | GRCh38 (hg38) | NC_000007.14 | Chr7 | 3,977,112 | 3,977,112 | ||
| nssv14745903 | Submitted genomic | NC_000007.14:g.397 7112_3977113ins157 9 | GRCh38 (hg38) | NC_000007.14 | Chr7 | 3,977,112 | 3,977,112 | ||
| nssv14746528 | Submitted genomic | NC_000007.14:g.397 7112_3977113ins157 9 | GRCh38 (hg38) | NC_000007.14 | Chr7 | 3,977,112 | 3,977,112 | ||
| nssv14735532 | Remapped | Perfect | NC_000007.13:g.401 6744_4016745ins157 9NC_000007.13:g.40 16744_4016745ins15 79 | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 4,016,744 | 4,016,744 |
| nssv14736204 | Remapped | Perfect | NC_000007.13:g.401 6744_4016745ins157 9NC_000007.13:g.40 16744_4016745ins15 79 | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 4,016,744 | 4,016,744 |
| nssv14736459 | Remapped | Perfect | NC_000007.13:g.401 6744_4016745ins157 9NC_000007.13:g.40 16744_4016745ins15 79 | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 4,016,744 | 4,016,744 |
| nssv14745903 | Remapped | Perfect | NC_000007.13:g.401 6744_4016745ins157 9NC_000007.13:g.40 16744_4016745ins15 79 | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 4,016,744 | 4,016,744 |
| nssv14746528 | Remapped | Perfect | NC_000007.13:g.401 6744_4016745ins157 9NC_000007.13:g.40 16744_4016745ins15 79 | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 4,016,744 | 4,016,744 |