nsv3375377
- Organism: Homo sapiens
- Study:nstd162 (Audano et al. 2019)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:14
- Validation:Not tested
- Clinical Assertions: No
- Region Size:16,236
- 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: 315 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 316 SVs from 49 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3375377 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000021.9 | Chr21 | 40,022,914 | 40,039,149 | ||
| nsv3375377 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000021.8 | Chr21 | 41,394,841 | 41,411,076 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14654007 | inversion | SAMN05603847 | Sequencing | de novo and local sequence assembly | 26,021 |
| nssv14654897 | inversion | SAMN09651199 | Sequencing | de novo and local sequence assembly | 27,381 |
| nssv14655884 | inversion | SAMN03838746 | Sequencing | de novo and local sequence assembly | 26,336 |
| nssv14659610 | inversion | SAMN03255769 | Sequencing | de novo and local sequence assembly | 21,134 |
| nssv14660195 | inversion | SAMN05603729 | Sequencing | de novo and local sequence assembly | 24,108 |
| nssv14660283 | inversion | SAMN04229548 | Sequencing | de novo and local sequence assembly | 23,009 |
| nssv14660713 | inversion | SAMN05181962 | Sequencing | de novo and local sequence assembly | 23,563 |
| nssv14660938 | inversion | SAMN09643900 | Sequencing | de novo and local sequence assembly | 26,631 |
| nssv14661404 | inversion | SAMN04229552 | Sequencing | de novo and local sequence assembly | 24,632 |
| nssv14661668 | inversion | SAMN04251426 | Sequencing | de novo and local sequence assembly | 22,074 |
| nssv14662714 | inversion | SAMN05603745 | Sequencing | de novo and local sequence assembly | 27,447 |
| nssv14664326 | inversion | SAMN02744161 | Sequencing | de novo and local sequence assembly | 20,941 |
| nssv14665289 | inversion | SAMN06885952 | Sequencing | de novo and local sequence assembly | 28,070 |
| nssv14668362 | inversion | SAMN09690649 | Sequencing | de novo and local sequence assembly | 21,495 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14654007 | Submitted genomic | NC_000021.9:g.4002 2914_40039149inv | GRCh38 (hg38) | NC_000021.9 | Chr21 | 40,022,914 | 40,039,149 | ||
| nssv14654897 | Submitted genomic | NC_000021.9:g.4002 2914_40039149inv | GRCh38 (hg38) | NC_000021.9 | Chr21 | 40,022,914 | 40,039,149 | ||
| nssv14655884 | Submitted genomic | NC_000021.9:g.4002 2914_40039149inv | GRCh38 (hg38) | NC_000021.9 | Chr21 | 40,022,914 | 40,039,149 | ||
| nssv14659610 | Submitted genomic | NC_000021.9:g.4002 2914_40039149inv | GRCh38 (hg38) | NC_000021.9 | Chr21 | 40,022,914 | 40,039,149 | ||
| nssv14660195 | Submitted genomic | NC_000021.9:g.4002 2914_40039149inv | GRCh38 (hg38) | NC_000021.9 | Chr21 | 40,022,914 | 40,039,149 | ||
| nssv14660283 | Submitted genomic | NC_000021.9:g.4002 2914_40039149inv | GRCh38 (hg38) | NC_000021.9 | Chr21 | 40,022,914 | 40,039,149 | ||
| nssv14660713 | Submitted genomic | NC_000021.9:g.4002 2914_40039149inv | GRCh38 (hg38) | NC_000021.9 | Chr21 | 40,022,914 | 40,039,149 | ||
| nssv14660938 | Submitted genomic | NC_000021.9:g.4002 2914_40039149inv | GRCh38 (hg38) | NC_000021.9 | Chr21 | 40,022,914 | 40,039,149 | ||
| nssv14661404 | Submitted genomic | NC_000021.9:g.4002 2914_40039149inv | GRCh38 (hg38) | NC_000021.9 | Chr21 | 40,022,914 | 40,039,149 | ||
| nssv14661668 | Submitted genomic | NC_000021.9:g.4002 2914_40039149inv | GRCh38 (hg38) | NC_000021.9 | Chr21 | 40,022,914 | 40,039,149 | ||
| nssv14662714 | Submitted genomic | NC_000021.9:g.4002 2914_40039149inv | GRCh38 (hg38) | NC_000021.9 | Chr21 | 40,022,914 | 40,039,149 | ||
| nssv14664326 | Submitted genomic | NC_000021.9:g.4002 2914_40039149inv | GRCh38 (hg38) | NC_000021.9 | Chr21 | 40,022,914 | 40,039,149 | ||
| nssv14665289 | Submitted genomic | NC_000021.9:g.4002 2914_40039149inv | GRCh38 (hg38) | NC_000021.9 | Chr21 | 40,022,914 | 40,039,149 | ||
| nssv14668362 | Submitted genomic | NC_000021.9:g.4002 2914_40039149inv | GRCh38 (hg38) | NC_000021.9 | Chr21 | 40,022,914 | 40,039,149 | ||
| nssv14654007 | Remapped | Perfect | NC_000021.8:g.4139 4841_41411076invNC _000021.8:g.413948 41_41411076inv | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 41,394,841 | 41,411,076 |
| nssv14654897 | Remapped | Perfect | NC_000021.8:g.4139 4841_41411076invNC _000021.8:g.413948 41_41411076inv | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 41,394,841 | 41,411,076 |
| nssv14655884 | Remapped | Perfect | NC_000021.8:g.4139 4841_41411076invNC _000021.8:g.413948 41_41411076inv | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 41,394,841 | 41,411,076 |
| nssv14659610 | Remapped | Perfect | NC_000021.8:g.4139 4841_41411076invNC _000021.8:g.413948 41_41411076inv | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 41,394,841 | 41,411,076 |
| nssv14660195 | Remapped | Perfect | NC_000021.8:g.4139 4841_41411076invNC _000021.8:g.413948 41_41411076inv | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 41,394,841 | 41,411,076 |
| nssv14660283 | Remapped | Perfect | NC_000021.8:g.4139 4841_41411076invNC _000021.8:g.413948 41_41411076inv | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 41,394,841 | 41,411,076 |
| nssv14660713 | Remapped | Perfect | NC_000021.8:g.4139 4841_41411076invNC _000021.8:g.413948 41_41411076inv | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 41,394,841 | 41,411,076 |
| nssv14660938 | Remapped | Perfect | NC_000021.8:g.4139 4841_41411076invNC _000021.8:g.413948 41_41411076inv | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 41,394,841 | 41,411,076 |
| nssv14661404 | Remapped | Perfect | NC_000021.8:g.4139 4841_41411076invNC _000021.8:g.413948 41_41411076inv | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 41,394,841 | 41,411,076 |
| nssv14661668 | Remapped | Perfect | NC_000021.8:g.4139 4841_41411076invNC _000021.8:g.413948 41_41411076inv | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 41,394,841 | 41,411,076 |
| nssv14662714 | Remapped | Perfect | NC_000021.8:g.4139 4841_41411076invNC _000021.8:g.413948 41_41411076inv | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 41,394,841 | 41,411,076 |
| nssv14664326 | Remapped | Perfect | NC_000021.8:g.4139 4841_41411076invNC _000021.8:g.413948 41_41411076inv | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 41,394,841 | 41,411,076 |
| nssv14665289 | Remapped | Perfect | NC_000021.8:g.4139 4841_41411076invNC _000021.8:g.413948 41_41411076inv | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 41,394,841 | 41,411,076 |
| nssv14668362 | Remapped | Perfect | NC_000021.8:g.4139 4841_41411076invNC _000021.8:g.413948 41_41411076inv | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 41,394,841 | 41,411,076 |