nsv3243892
- Organism: Homo sapiens
- Study:nstd152 (Chaisson et al. 2019)
- Variant Type:insertion
- Method Type:Optical mapping
- Submitted on:GRCh38 (hg38)
- Variant Calls:9
- Validation:Not tested
- Clinical Assertions: No
- Region Size:40,490
- Publication(s):Chaisson 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: 334 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 332 SVs from 50 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3243892 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 48,060,560 | 48,101,049 | ||
| nsv3243892 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000017.10 | Chr17 | 46,137,922 | 46,178,411 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv14261620 | insertion | HG00512 | Optical mapping | Optical mapping | Homozygous | 13,827 |
| nssv14261621 | insertion | SAMN00006466 | Optical mapping | Optical mapping | Heterozygous | 14,137 |
| nssv14261622 | insertion | HG00514 | Optical mapping | Optical mapping | Homozygous | 39,861 |
| nssv14261623 | insertion | SAMN00006579 | Optical mapping | Optical mapping | Homozygous | 13,953 |
| nssv14261624 | insertion | SAMN00006580 | Optical mapping | Optical mapping | Heterozygous | 14,212 |
| nssv14261625 | insertion | SAMN00006581 | Optical mapping | Optical mapping | Homozygous | 41,185 |
| nssv14261626 | insertion | SAMN00001694 | Optical mapping | Optical mapping | Homozygous | 16,419 |
| nssv14261627 | insertion | SAMN00001695 | Optical mapping | Optical mapping | Heterozygous | 15,732 |
| nssv14261628 | insertion | SAMN00001696 | Optical mapping | Optical mapping | Heterozygous | 45,591 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14261620 | Submitted genomic | NC_000017.11:g.(48 060560_?)_(?_48101 049)ins1354 | GRCh38 (hg38) | NC_000017.11 | Chr17 | 48,060,560 | 48,101,049 | ||
| nssv14261621 | Submitted genomic | NC_000017.11:g.(48 060560_?)_(?_48101 049)ins1354 | GRCh38 (hg38) | NC_000017.11 | Chr17 | 48,060,560 | 48,101,049 | ||
| nssv14261622 | Submitted genomic | NC_000017.11:g.(48 060560_?)_(?_48101 049)ins1354 | GRCh38 (hg38) | NC_000017.11 | Chr17 | 48,060,560 | 48,101,049 | ||
| nssv14261623 | Submitted genomic | NC_000017.11:g.(48 060560_?)_(?_48101 049)ins1354 | GRCh38 (hg38) | NC_000017.11 | Chr17 | 48,060,560 | 48,101,049 | ||
| nssv14261624 | Submitted genomic | NC_000017.11:g.(48 060560_?)_(?_48101 049)ins1354 | GRCh38 (hg38) | NC_000017.11 | Chr17 | 48,060,560 | 48,101,049 | ||
| nssv14261625 | Submitted genomic | NC_000017.11:g.(48 060560_?)_(?_48101 049)ins1354 | GRCh38 (hg38) | NC_000017.11 | Chr17 | 48,060,560 | 48,101,049 | ||
| nssv14261626 | Submitted genomic | NC_000017.11:g.(48 060560_?)_(?_48101 049)ins1354 | GRCh38 (hg38) | NC_000017.11 | Chr17 | 48,060,560 | 48,101,049 | ||
| nssv14261627 | Submitted genomic | NC_000017.11:g.(48 060560_?)_(?_48101 049)ins1354 | GRCh38 (hg38) | NC_000017.11 | Chr17 | 48,060,560 | 48,101,049 | ||
| nssv14261628 | Submitted genomic | NC_000017.11:g.(48 060560_?)_(?_48101 049)ins1354 | GRCh38 (hg38) | NC_000017.11 | Chr17 | 48,060,560 | 48,101,049 | ||
| nssv14261620 | Remapped | Perfect | NC_000017.10:g.(46 137922_?)_(?_46178 411)ins1354 | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 46,137,922 | 46,178,411 |
| nssv14261621 | Remapped | Perfect | NC_000017.10:g.(46 137922_?)_(?_46178 411)ins1354 | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 46,137,922 | 46,178,411 |
| nssv14261622 | Remapped | Perfect | NC_000017.10:g.(46 137922_?)_(?_46178 411)ins1354 | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 46,137,922 | 46,178,411 |
| nssv14261623 | Remapped | Perfect | NC_000017.10:g.(46 137922_?)_(?_46178 411)ins1354 | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 46,137,922 | 46,178,411 |
| nssv14261624 | Remapped | Perfect | NC_000017.10:g.(46 137922_?)_(?_46178 411)ins1354 | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 46,137,922 | 46,178,411 |
| nssv14261625 | Remapped | Perfect | NC_000017.10:g.(46 137922_?)_(?_46178 411)ins1354 | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 46,137,922 | 46,178,411 |
| nssv14261626 | Remapped | Perfect | NC_000017.10:g.(46 137922_?)_(?_46178 411)ins1354 | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 46,137,922 | 46,178,411 |
| nssv14261627 | Remapped | Perfect | NC_000017.10:g.(46 137922_?)_(?_46178 411)ins1354 | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 46,137,922 | 46,178,411 |
| nssv14261628 | Remapped | Perfect | NC_000017.10:g.(46 137922_?)_(?_46178 411)ins1354 | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 46,137,922 | 46,178,411 |