nsv2813267
- Organism: Homo sapiens
- Study:nstd137 (Huddleston et al. 2016)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:2,971
- Publication(s):Huddleston et al. 2016
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: 160 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 156 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 31 SVs from 20 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv2813267 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000006.12 | Chr6 | 106,720,690 | 106,723,660 | ||
| nsv2813267 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000006.11 | Chr6 | 107,168,565 | 107,171,535 |
| nsv2813267 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004504300.1 | Chr6|NW_00 4504300.1 | 25,313 | 28,283 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv13696668 | inversion | SAMN03255769 | Sequencing | Local sequence assembly | 46 |
| nssv13698714 | inversion | SAMN02744161 | Sequencing | Local sequence assembly | 47 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv13696668 | Submitted genomic | NC_000006.12:g.106 720690_106723660in v | GRCh38 (hg38) | NC_000006.12 | Chr6 | 106,720,690 | 106,723,660 | ||
| nssv13698714 | Submitted genomic | NC_000006.12:g.106 720690_106723660in v | GRCh38 (hg38) | NC_000006.12 | Chr6 | 106,720,690 | 106,723,660 | ||
| nssv13696668 | Remapped | Perfect | NW_004504300.1:g.2 5313_28283inv | GRCh37.p13 | First Pass | NW_004504300.1 | Chr6|NW_00 4504300.1 | 25,313 | 28,283 |
| nssv13698714 | Remapped | Perfect | NW_004504300.1:g.2 5313_28283inv | GRCh37.p13 | First Pass | NW_004504300.1 | Chr6|NW_00 4504300.1 | 25,313 | 28,283 |
| nssv13696668 | Remapped | Perfect | NC_000006.11:g.107 168565_107171535in v | GRCh37.p13 | Second Pass | NC_000006.11 | Chr6 | 107,168,565 | 107,171,535 |
| nssv13698714 | Remapped | Perfect | NC_000006.11:g.107 168565_107171535in v | GRCh37.p13 | Second Pass | NC_000006.11 | Chr6 | 107,168,565 | 107,171,535 |