nsv3551146
- Organism: Homo sapiens
- Study:nstd152 (Chaisson et al. 2019)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:19,014
- Publication(s):Chaisson 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: 376 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 372 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 11 SVs from 7 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3551146 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 72,855,897 (-1, +0) | 72,874,910 (-0, +1) | ||
| nsv3551146 | Remapped | Good | GRCh37.p13 | Primary Assembly | Second Pass | NC_000023.10 | ChrX | 72,075,760 (-1, +0) | 72,094,744 (-0, +1) |
| nsv3551146 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004070882.1 | ChrX|NW_00 4070882.1 | 544,914 (-1, +0) | 563,927 (-0, +1) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv14454955 | inversion | SAMN00001695 | Sequencing | Sequence alignment | Homozygous | 15,732 |
| nssv14465419 | inversion | SAMN00001696 | Sequencing | Sequence alignment | Heterozygous | 45,591 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14454955 | Submitted genomic | NC_000023.11:g.(72 855896_72855897)_( 72874910_72874911) inv | GRCh38 (hg38) | NC_000023.11 | ChrX | 72,855,897 (-1, +0) | 72,874,910 (-0, +1) | ||
| nssv14465419 | Submitted genomic | NC_000023.11:g.(72 855896_72855897)_( 72874910_72874911) inv | GRCh38 (hg38) | NC_000023.11 | ChrX | 72,855,897 (-1, +0) | 72,874,910 (-0, +1) | ||
| nssv14454955 | Remapped | Perfect | NW_004070882.1:g.( 544913_544914)_(56 3927_563928)inv | GRCh37.p13 | First Pass | NW_004070882.1 | ChrX|NW_00 4070882.1 | 544,914 (-1, +0) | 563,927 (-0, +1) |
| nssv14465419 | Remapped | Perfect | NW_004070882.1:g.( 544913_544914)_(56 3927_563928)inv | GRCh37.p13 | First Pass | NW_004070882.1 | ChrX|NW_00 4070882.1 | 544,914 (-1, +0) | 563,927 (-0, +1) |
| nssv14454955 | Remapped | Good | NC_000023.10:g.(72 075759_72075760)_( 72094744_72094745) inv | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 72,075,760 (-1, +0) | 72,094,744 (-0, +1) |
| nssv14465419 | Remapped | Good | NC_000023.10:g.(72 075759_72075760)_( 72094744_72094745) inv | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 72,075,760 (-1, +0) | 72,094,744 (-0, +1) |