nsv3337814
- Organism: Homo sapiens
- Study:nstd162 (Audano et al. 2019)
- Variant Type:mobile element deletion
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:9
- Validation:Not tested
- Clinical Assertions: No
- Region Size:2,731
- 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: 208 SVs from 52 studies. See in: genome view
Overlapping variant regions from other studies: 208 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3337814 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000012.12 | Chr12 | 70,201,068 | 70,203,798 | ||
| nsv3337814 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 70,594,848 | 70,597,578 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14812389 | sva deletion | SAMN09643900 | Sequencing | de novo and local sequence assembly | 26,631 |
| nssv14812776 | sva deletion | SAMN04229548 | Sequencing | de novo and local sequence assembly | 23,009 |
| nssv14813192 | sva deletion | SAMN05603847 | Sequencing | de novo and local sequence assembly | 26,021 |
| nssv14813406 | sva deletion | SAMN09651199 | Sequencing | de novo and local sequence assembly | 27,381 |
| nssv14813593 | sva deletion | SAMN05603745 | Sequencing | de novo and local sequence assembly | 27,447 |
| nssv14813848 | sva deletion | SAMN09690649 | Sequencing | de novo and local sequence assembly | 21,495 |
| nssv14814193 | sva deletion | SAMN05181962 | Sequencing | de novo and local sequence assembly | 23,563 |
| nssv14814405 | sva deletion | SAMN03838746 | Sequencing | de novo and local sequence assembly | 26,336 |
| nssv14814662 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv14812389 | Submitted genomic | NC_000012.12:g.702 01068_70203798del | GRCh38 (hg38) | NC_000012.12 | Chr12 | 70,201,068 | 70,203,798 | ||
| nssv14812776 | Submitted genomic | NC_000012.12:g.702 01068_70203798del | GRCh38 (hg38) | NC_000012.12 | Chr12 | 70,201,068 | 70,203,798 | ||
| nssv14813192 | Submitted genomic | NC_000012.12:g.702 01068_70203798del | GRCh38 (hg38) | NC_000012.12 | Chr12 | 70,201,068 | 70,203,798 | ||
| nssv14813406 | Submitted genomic | NC_000012.12:g.702 01068_70203798del | GRCh38 (hg38) | NC_000012.12 | Chr12 | 70,201,068 | 70,203,798 | ||
| nssv14813593 | Submitted genomic | NC_000012.12:g.702 01068_70203798del | GRCh38 (hg38) | NC_000012.12 | Chr12 | 70,201,068 | 70,203,798 | ||
| nssv14813848 | Submitted genomic | NC_000012.12:g.702 01068_70203798del | GRCh38 (hg38) | NC_000012.12 | Chr12 | 70,201,068 | 70,203,798 | ||
| nssv14814193 | Submitted genomic | NC_000012.12:g.702 01068_70203798del | GRCh38 (hg38) | NC_000012.12 | Chr12 | 70,201,068 | 70,203,798 | ||
| nssv14814405 | Submitted genomic | NC_000012.12:g.702 01068_70203798del | GRCh38 (hg38) | NC_000012.12 | Chr12 | 70,201,068 | 70,203,798 | ||
| nssv14814662 | Submitted genomic | NC_000012.12:g.702 01068_70203798del | GRCh38 (hg38) | NC_000012.12 | Chr12 | 70,201,068 | 70,203,798 | ||
| nssv14812389 | Remapped | Perfect | NC_000012.11:g.705 94848_70597578delN C_000012.11:g.7059 4848_70597578del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 70,594,848 | 70,597,578 |
| nssv14812776 | Remapped | Perfect | NC_000012.11:g.705 94848_70597578delN C_000012.11:g.7059 4848_70597578del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 70,594,848 | 70,597,578 |
| nssv14813192 | Remapped | Perfect | NC_000012.11:g.705 94848_70597578delN C_000012.11:g.7059 4848_70597578del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 70,594,848 | 70,597,578 |
| nssv14813406 | Remapped | Perfect | NC_000012.11:g.705 94848_70597578delN C_000012.11:g.7059 4848_70597578del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 70,594,848 | 70,597,578 |
| nssv14813593 | Remapped | Perfect | NC_000012.11:g.705 94848_70597578delN C_000012.11:g.7059 4848_70597578del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 70,594,848 | 70,597,578 |
| nssv14813848 | Remapped | Perfect | NC_000012.11:g.705 94848_70597578delN C_000012.11:g.7059 4848_70597578del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 70,594,848 | 70,597,578 |
| nssv14814193 | Remapped | Perfect | NC_000012.11:g.705 94848_70597578delN C_000012.11:g.7059 4848_70597578del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 70,594,848 | 70,597,578 |
| nssv14814405 | Remapped | Perfect | NC_000012.11:g.705 94848_70597578delN C_000012.11:g.7059 4848_70597578del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 70,594,848 | 70,597,578 |
| nssv14814662 | Remapped | Perfect | NC_000012.11:g.705 94848_70597578delN C_000012.11:g.7059 4848_70597578del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 70,594,848 | 70,597,578 |