nsv3338465
- Organism: Homo sapiens
- Study:nstd162 (Audano et al. 2019)
- Variant Type:mobile element deletion
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:12
- Validation:Not tested
- Clinical Assertions: No
- Region Size:2,746
- 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: 134 SVs from 48 studies. See in: genome view
Overlapping variant regions from other studies: 134 SVs from 48 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv3338465 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000012.12 | Chr12 | 95,839,804 | 95,842,549 | ||
nsv3338465 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 96,233,582 | 96,236,327 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv14812069 | sva deletion | SAMN03255769 | Sequencing | de novo and local sequence assembly | 21,134 |
nssv14812390 | sva deletion | SAMN09643900 | Sequencing | de novo and local sequence assembly | 26,631 |
nssv14812777 | sva deletion | SAMN04229548 | Sequencing | de novo and local sequence assembly | 23,009 |
nssv14812985 | sva deletion | SAMN05603729 | Sequencing | de novo and local sequence assembly | 24,108 |
nssv14813193 | sva deletion | SAMN05603847 | Sequencing | de novo and local sequence assembly | 26,021 |
nssv14813407 | sva deletion | SAMN09651199 | Sequencing | de novo and local sequence assembly | 27,381 |
nssv14813595 | sva deletion | SAMN05603745 | Sequencing | de novo and local sequence assembly | 27,447 |
nssv14813850 | sva deletion | SAMN09690649 | Sequencing | de novo and local sequence assembly | 21,495 |
nssv14814028 | sva deletion | SAMN04251426 | Sequencing | de novo and local sequence assembly | 22,074 |
nssv14814194 | sva deletion | SAMN05181962 | Sequencing | de novo and local sequence assembly | 23,563 |
nssv14814409 | sva deletion | SAMN03838746 | Sequencing | de novo and local sequence assembly | 26,336 |
nssv14814665 | 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 |
---|---|---|---|---|---|---|---|---|---|
nssv14812069 | Submitted genomic | NC_000012.12:g.958 39804_95842549del | GRCh38 (hg38) | NC_000012.12 | Chr12 | 95,839,804 | 95,842,549 | ||
nssv14812390 | Submitted genomic | NC_000012.12:g.958 39804_95842549del | GRCh38 (hg38) | NC_000012.12 | Chr12 | 95,839,804 | 95,842,549 | ||
nssv14812777 | Submitted genomic | NC_000012.12:g.958 39804_95842549del | GRCh38 (hg38) | NC_000012.12 | Chr12 | 95,839,804 | 95,842,549 | ||
nssv14812985 | Submitted genomic | NC_000012.12:g.958 39804_95842549del | GRCh38 (hg38) | NC_000012.12 | Chr12 | 95,839,804 | 95,842,549 | ||
nssv14813193 | Submitted genomic | NC_000012.12:g.958 39804_95842549del | GRCh38 (hg38) | NC_000012.12 | Chr12 | 95,839,804 | 95,842,549 | ||
nssv14813407 | Submitted genomic | NC_000012.12:g.958 39804_95842549del | GRCh38 (hg38) | NC_000012.12 | Chr12 | 95,839,804 | 95,842,549 | ||
nssv14813595 | Submitted genomic | NC_000012.12:g.958 39804_95842549del | GRCh38 (hg38) | NC_000012.12 | Chr12 | 95,839,804 | 95,842,549 | ||
nssv14813850 | Submitted genomic | NC_000012.12:g.958 39804_95842549del | GRCh38 (hg38) | NC_000012.12 | Chr12 | 95,839,804 | 95,842,549 | ||
nssv14814028 | Submitted genomic | NC_000012.12:g.958 39804_95842549del | GRCh38 (hg38) | NC_000012.12 | Chr12 | 95,839,804 | 95,842,549 | ||
nssv14814194 | Submitted genomic | NC_000012.12:g.958 39804_95842549del | GRCh38 (hg38) | NC_000012.12 | Chr12 | 95,839,804 | 95,842,549 | ||
nssv14814409 | Submitted genomic | NC_000012.12:g.958 39804_95842549del | GRCh38 (hg38) | NC_000012.12 | Chr12 | 95,839,804 | 95,842,549 | ||
nssv14814665 | Submitted genomic | NC_000012.12:g.958 39804_95842549del | GRCh38 (hg38) | NC_000012.12 | Chr12 | 95,839,804 | 95,842,549 | ||
nssv14812069 | Remapped | Perfect | NC_000012.11:g.962 33582_96236327delN C_000012.11:g.9623 3582_96236327del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 96,233,582 | 96,236,327 |
nssv14812390 | Remapped | Perfect | NC_000012.11:g.962 33582_96236327delN C_000012.11:g.9623 3582_96236327del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 96,233,582 | 96,236,327 |
nssv14812777 | Remapped | Perfect | NC_000012.11:g.962 33582_96236327delN C_000012.11:g.9623 3582_96236327del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 96,233,582 | 96,236,327 |
nssv14812985 | Remapped | Perfect | NC_000012.11:g.962 33582_96236327delN C_000012.11:g.9623 3582_96236327del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 96,233,582 | 96,236,327 |
nssv14813193 | Remapped | Perfect | NC_000012.11:g.962 33582_96236327delN C_000012.11:g.9623 3582_96236327del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 96,233,582 | 96,236,327 |
nssv14813407 | Remapped | Perfect | NC_000012.11:g.962 33582_96236327delN C_000012.11:g.9623 3582_96236327del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 96,233,582 | 96,236,327 |
nssv14813595 | Remapped | Perfect | NC_000012.11:g.962 33582_96236327delN C_000012.11:g.9623 3582_96236327del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 96,233,582 | 96,236,327 |
nssv14813850 | Remapped | Perfect | NC_000012.11:g.962 33582_96236327delN C_000012.11:g.9623 3582_96236327del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 96,233,582 | 96,236,327 |
nssv14814028 | Remapped | Perfect | NC_000012.11:g.962 33582_96236327delN C_000012.11:g.9623 3582_96236327del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 96,233,582 | 96,236,327 |
nssv14814194 | Remapped | Perfect | NC_000012.11:g.962 33582_96236327delN C_000012.11:g.9623 3582_96236327del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 96,233,582 | 96,236,327 |
nssv14814409 | Remapped | Perfect | NC_000012.11:g.962 33582_96236327delN C_000012.11:g.9623 3582_96236327del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 96,233,582 | 96,236,327 |
nssv14814665 | Remapped | Perfect | NC_000012.11:g.962 33582_96236327delN C_000012.11:g.9623 3582_96236327del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 96,233,582 | 96,236,327 |