nsv3351923
- Organism: Homo sapiens
- Study:nstd162 (Audano et al. 2019)
- Variant Type:mobile element deletion
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:11
- Validation:Not tested
- Clinical Assertions: No
- Region Size:3,154
- 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: 163 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 163 SVs from 51 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv3351923 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000014.9 | Chr14 | 64,893,669 | 64,896,822 | ||
nsv3351923 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000014.8 | Chr14 | 65,360,387 | 65,363,540 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv14812073 | sva deletion | SAMN03255769 | Sequencing | de novo and local sequence assembly | 21,134 |
nssv14812224 | sva deletion | SAMN02744161 | Sequencing | de novo and local sequence assembly | 20,941 |
nssv14812396 | sva deletion | SAMN09643900 | Sequencing | de novo and local sequence assembly | 26,631 |
nssv14812587 | sva deletion | SAMN04229552 | Sequencing | de novo and local sequence assembly | 24,632 |
nssv14812784 | sva deletion | SAMN04229548 | Sequencing | de novo and local sequence assembly | 23,009 |
nssv14812993 | sva deletion | SAMN05603729 | Sequencing | de novo and local sequence assembly | 24,108 |
nssv14813201 | sva deletion | SAMN05603847 | Sequencing | de novo and local sequence assembly | 26,021 |
nssv14813412 | sva deletion | SAMN09651199 | Sequencing | de novo and local sequence assembly | 27,381 |
nssv14813859 | sva deletion | SAMN09690649 | Sequencing | de novo and local sequence assembly | 21,495 |
nssv14814033 | sva deletion | SAMN04251426 | Sequencing | de novo and local sequence assembly | 22,074 |
nssv14814198 | 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 |
---|---|---|---|---|---|---|---|---|---|
nssv14812073 | Submitted genomic | NC_000014.9:g.6489 3669_64896822del | GRCh38 (hg38) | NC_000014.9 | Chr14 | 64,893,669 | 64,896,822 | ||
nssv14812224 | Submitted genomic | NC_000014.9:g.6489 3669_64896822del | GRCh38 (hg38) | NC_000014.9 | Chr14 | 64,893,669 | 64,896,822 | ||
nssv14812396 | Submitted genomic | NC_000014.9:g.6489 3669_64896822del | GRCh38 (hg38) | NC_000014.9 | Chr14 | 64,893,669 | 64,896,822 | ||
nssv14812587 | Submitted genomic | NC_000014.9:g.6489 3669_64896822del | GRCh38 (hg38) | NC_000014.9 | Chr14 | 64,893,669 | 64,896,822 | ||
nssv14812784 | Submitted genomic | NC_000014.9:g.6489 3669_64896822del | GRCh38 (hg38) | NC_000014.9 | Chr14 | 64,893,669 | 64,896,822 | ||
nssv14812993 | Submitted genomic | NC_000014.9:g.6489 3669_64896822del | GRCh38 (hg38) | NC_000014.9 | Chr14 | 64,893,669 | 64,896,822 | ||
nssv14813201 | Submitted genomic | NC_000014.9:g.6489 3669_64896822del | GRCh38 (hg38) | NC_000014.9 | Chr14 | 64,893,669 | 64,896,822 | ||
nssv14813412 | Submitted genomic | NC_000014.9:g.6489 3669_64896822del | GRCh38 (hg38) | NC_000014.9 | Chr14 | 64,893,669 | 64,896,822 | ||
nssv14813859 | Submitted genomic | NC_000014.9:g.6489 3669_64896822del | GRCh38 (hg38) | NC_000014.9 | Chr14 | 64,893,669 | 64,896,822 | ||
nssv14814033 | Submitted genomic | NC_000014.9:g.6489 3669_64896822del | GRCh38 (hg38) | NC_000014.9 | Chr14 | 64,893,669 | 64,896,822 | ||
nssv14814198 | Submitted genomic | NC_000014.9:g.6489 3669_64896822del | GRCh38 (hg38) | NC_000014.9 | Chr14 | 64,893,669 | 64,896,822 | ||
nssv14812073 | Remapped | Perfect | NC_000014.8:g.6536 0387_65363540delNC _000014.8:g.653603 87_65363540del | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 65,360,387 | 65,363,540 |
nssv14812224 | Remapped | Perfect | NC_000014.8:g.6536 0387_65363540delNC _000014.8:g.653603 87_65363540del | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 65,360,387 | 65,363,540 |
nssv14812396 | Remapped | Perfect | NC_000014.8:g.6536 0387_65363540delNC _000014.8:g.653603 87_65363540del | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 65,360,387 | 65,363,540 |
nssv14812587 | Remapped | Perfect | NC_000014.8:g.6536 0387_65363540delNC _000014.8:g.653603 87_65363540del | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 65,360,387 | 65,363,540 |
nssv14812784 | Remapped | Perfect | NC_000014.8:g.6536 0387_65363540delNC _000014.8:g.653603 87_65363540del | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 65,360,387 | 65,363,540 |
nssv14812993 | Remapped | Perfect | NC_000014.8:g.6536 0387_65363540delNC _000014.8:g.653603 87_65363540del | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 65,360,387 | 65,363,540 |
nssv14813201 | Remapped | Perfect | NC_000014.8:g.6536 0387_65363540delNC _000014.8:g.653603 87_65363540del | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 65,360,387 | 65,363,540 |
nssv14813412 | Remapped | Perfect | NC_000014.8:g.6536 0387_65363540delNC _000014.8:g.653603 87_65363540del | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 65,360,387 | 65,363,540 |
nssv14813859 | Remapped | Perfect | NC_000014.8:g.6536 0387_65363540delNC _000014.8:g.653603 87_65363540del | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 65,360,387 | 65,363,540 |
nssv14814033 | Remapped | Perfect | NC_000014.8:g.6536 0387_65363540delNC _000014.8:g.653603 87_65363540del | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 65,360,387 | 65,363,540 |
nssv14814198 | Remapped | Perfect | NC_000014.8:g.6536 0387_65363540delNC _000014.8:g.653603 87_65363540del | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 65,360,387 | 65,363,540 |