nsv3328150
- Organism: Homo sapiens
- Study:nstd162 (Audano et al. 2019)
- Variant Type:mobile element deletion
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:7
- Validation:Not tested
- Clinical Assertions: No
- Region Size:2,732
- 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: 164 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 164 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3328150 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000010.11 | Chr10 | 31,968,954 | 31,971,685 | ||
| nsv3328150 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000010.10 | Chr10 | 32,257,882 | 32,260,613 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14812048 | sva deletion | SAMN03255769 | Sequencing | de novo and local sequence assembly | 21,134 |
| nssv14812374 | sva deletion | SAMN09643900 | Sequencing | de novo and local sequence assembly | 26,631 |
| nssv14812559 | sva deletion | SAMN04229552 | Sequencing | de novo and local sequence assembly | 24,632 |
| nssv14812761 | sva deletion | SAMN04229548 | Sequencing | de novo and local sequence assembly | 23,009 |
| nssv14813174 | sva deletion | SAMN05603847 | Sequencing | de novo and local sequence assembly | 26,021 |
| nssv14813389 | sva deletion | SAMN09651199 | Sequencing | de novo and local sequence assembly | 27,381 |
| nssv14814180 | sva deletion | SAMN05181962 | Sequencing | de novo and local sequence assembly | 23,563 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14812048 | Submitted genomic | NC_000010.11:g.319 68954_31971685del | GRCh38 (hg38) | NC_000010.11 | Chr10 | 31,968,954 | 31,971,685 | ||
| nssv14812374 | Submitted genomic | NC_000010.11:g.319 68954_31971685del | GRCh38 (hg38) | NC_000010.11 | Chr10 | 31,968,954 | 31,971,685 | ||
| nssv14812559 | Submitted genomic | NC_000010.11:g.319 68954_31971685del | GRCh38 (hg38) | NC_000010.11 | Chr10 | 31,968,954 | 31,971,685 | ||
| nssv14812761 | Submitted genomic | NC_000010.11:g.319 68954_31971685del | GRCh38 (hg38) | NC_000010.11 | Chr10 | 31,968,954 | 31,971,685 | ||
| nssv14813174 | Submitted genomic | NC_000010.11:g.319 68954_31971685del | GRCh38 (hg38) | NC_000010.11 | Chr10 | 31,968,954 | 31,971,685 | ||
| nssv14813389 | Submitted genomic | NC_000010.11:g.319 68954_31971685del | GRCh38 (hg38) | NC_000010.11 | Chr10 | 31,968,954 | 31,971,685 | ||
| nssv14814180 | Submitted genomic | NC_000010.11:g.319 68954_31971685del | GRCh38 (hg38) | NC_000010.11 | Chr10 | 31,968,954 | 31,971,685 | ||
| nssv14812048 | Remapped | Perfect | NC_000010.10:g.322 57882_32260613delN C_000010.10:g.3225 7882_32260613del | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 32,257,882 | 32,260,613 |
| nssv14812374 | Remapped | Perfect | NC_000010.10:g.322 57882_32260613delN C_000010.10:g.3225 7882_32260613del | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 32,257,882 | 32,260,613 |
| nssv14812559 | Remapped | Perfect | NC_000010.10:g.322 57882_32260613delN C_000010.10:g.3225 7882_32260613del | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 32,257,882 | 32,260,613 |
| nssv14812761 | Remapped | Perfect | NC_000010.10:g.322 57882_32260613delN C_000010.10:g.3225 7882_32260613del | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 32,257,882 | 32,260,613 |
| nssv14813174 | Remapped | Perfect | NC_000010.10:g.322 57882_32260613delN C_000010.10:g.3225 7882_32260613del | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 32,257,882 | 32,260,613 |
| nssv14813389 | Remapped | Perfect | NC_000010.10:g.322 57882_32260613delN C_000010.10:g.3225 7882_32260613del | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 32,257,882 | 32,260,613 |
| nssv14814180 | Remapped | Perfect | NC_000010.10:g.322 57882_32260613delN C_000010.10:g.3225 7882_32260613del | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 32,257,882 | 32,260,613 |