nsv3375202
- Organism: Homo sapiens
- Study:nstd162 (Audano et al. 2019)
- Variant Type:mobile element deletion
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:10
- Validation:Not tested
- Clinical Assertions: No
- Region Size:2,792
- Description:Absence of a SVA insertion that is present in the reference
- 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: 254 SVs from 52 studies. See in: genome view
Overlapping variant regions from other studies: 254 SVs from 52 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3375202 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 201,281,926 | 201,284,717 | ||
| nsv3375202 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 202,146,649 | 202,149,440 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14812096 | sva deletion | SAMN03255769 | Sequencing | de novo and local sequence assembly | 21,134 |
| nssv14812427 | sva deletion | SAMN09643900 | Sequencing | de novo and local sequence assembly | 26,631 |
| nssv14812623 | sva deletion | SAMN04229552 | Sequencing | de novo and local sequence assembly | 24,632 |
| nssv14813235 | sva deletion | SAMN05603847 | Sequencing | de novo and local sequence assembly | 26,021 |
| nssv14813443 | sva deletion | SAMN09651199 | Sequencing | de novo and local sequence assembly | 27,381 |
| nssv14813656 | sva deletion | SAMN05603745 | Sequencing | de novo and local sequence assembly | 27,447 |
| nssv14813884 | sva deletion | SAMN09690649 | Sequencing | de novo and local sequence assembly | 21,495 |
| nssv14814059 | sva deletion | SAMN04251426 | Sequencing | de novo and local sequence assembly | 22,074 |
| nssv14814465 | sva deletion | SAMN03838746 | Sequencing | de novo and local sequence assembly | 26,336 |
| nssv14814717 | sva deletion | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv14812096 | Submitted genomic | NC_000002.12:g.201 281926_201284717de l | GRCh38 (hg38) | NC_000002.12 | Chr2 | 201,281,926 | 201,284,717 | ||
| nssv14812427 | Submitted genomic | NC_000002.12:g.201 281926_201284717de l | GRCh38 (hg38) | NC_000002.12 | Chr2 | 201,281,926 | 201,284,717 | ||
| nssv14812623 | Submitted genomic | NC_000002.12:g.201 281926_201284717de l | GRCh38 (hg38) | NC_000002.12 | Chr2 | 201,281,926 | 201,284,717 | ||
| nssv14813235 | Submitted genomic | NC_000002.12:g.201 281926_201284717de l | GRCh38 (hg38) | NC_000002.12 | Chr2 | 201,281,926 | 201,284,717 | ||
| nssv14813443 | Submitted genomic | NC_000002.12:g.201 281926_201284717de l | GRCh38 (hg38) | NC_000002.12 | Chr2 | 201,281,926 | 201,284,717 | ||
| nssv14813656 | Submitted genomic | NC_000002.12:g.201 281926_201284717de l | GRCh38 (hg38) | NC_000002.12 | Chr2 | 201,281,926 | 201,284,717 | ||
| nssv14813884 | Submitted genomic | NC_000002.12:g.201 281926_201284717de l | GRCh38 (hg38) | NC_000002.12 | Chr2 | 201,281,926 | 201,284,717 | ||
| nssv14814059 | Submitted genomic | NC_000002.12:g.201 281926_201284717de l | GRCh38 (hg38) | NC_000002.12 | Chr2 | 201,281,926 | 201,284,717 | ||
| nssv14814465 | Submitted genomic | NC_000002.12:g.201 281926_201284717de l | GRCh38 (hg38) | NC_000002.12 | Chr2 | 201,281,926 | 201,284,717 | ||
| nssv14814717 | Submitted genomic | NC_000002.12:g.201 281926_201284717de l | GRCh38 (hg38) | NC_000002.12 | Chr2 | 201,281,926 | 201,284,717 | ||
| nssv14812096 | Remapped | Perfect | NC_000002.11:g.202 146649_202149440de lNC_000002.11:g.20 2146649_202149440d el | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 202,146,649 | 202,149,440 |
| nssv14812427 | Remapped | Perfect | NC_000002.11:g.202 146649_202149440de lNC_000002.11:g.20 2146649_202149440d el | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 202,146,649 | 202,149,440 |
| nssv14812623 | Remapped | Perfect | NC_000002.11:g.202 146649_202149440de lNC_000002.11:g.20 2146649_202149440d el | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 202,146,649 | 202,149,440 |
| nssv14813235 | Remapped | Perfect | NC_000002.11:g.202 146649_202149440de lNC_000002.11:g.20 2146649_202149440d el | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 202,146,649 | 202,149,440 |
| nssv14813443 | Remapped | Perfect | NC_000002.11:g.202 146649_202149440de lNC_000002.11:g.20 2146649_202149440d el | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 202,146,649 | 202,149,440 |
| nssv14813656 | Remapped | Perfect | NC_000002.11:g.202 146649_202149440de lNC_000002.11:g.20 2146649_202149440d el | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 202,146,649 | 202,149,440 |
| nssv14813884 | Remapped | Perfect | NC_000002.11:g.202 146649_202149440de lNC_000002.11:g.20 2146649_202149440d el | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 202,146,649 | 202,149,440 |
| nssv14814059 | Remapped | Perfect | NC_000002.11:g.202 146649_202149440de lNC_000002.11:g.20 2146649_202149440d el | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 202,146,649 | 202,149,440 |
| nssv14814465 | Remapped | Perfect | NC_000002.11:g.202 146649_202149440de lNC_000002.11:g.20 2146649_202149440d el | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 202,146,649 | 202,149,440 |
| nssv14814717 | Remapped | Perfect | NC_000002.11:g.202 146649_202149440de lNC_000002.11:g.20 2146649_202149440d el | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 202,146,649 | 202,149,440 |