nsv4730181
- Organism: Homo sapiens
- Study:nstd198 (Hanlon et al. 2021)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:18
- Validation:Not tested
- Clinical Assertions: No
- Region Size:13,935
- Publication(s):Hanlon et al. 2021
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: 583 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 581 SVs from 82 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4730181 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000011.10 | Chr11 | 49,714,655 | 49,728,589 | ||
| nsv4730181 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000011.9 | Chr11 | 49,736,207 | 49,750,141 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv16257058 | inversion | SAMN00006581 | Sequencing | Genotyping | Homozygous | 348 |
| nssv16258077 | inversion | SAMN00006581 | Sequencing | Genotyping | Homozygous | 348 |
| nssv16256907 | inversion | SAMN00006466 | Sequencing | Genotyping | Homozygous | 335 |
| nssv16258841 | inversion | SAMN00006466 | Sequencing | Genotyping | Homozygous | 335 |
| nssv16257288 | inversion | HG00512 | Sequencing | Genotyping | Homozygous | 328 |
| nssv16258404 | inversion | HG00512 | Sequencing | Genotyping | Homozygous | 328 |
| nssv16257303 | inversion | SAMN00001696 | Sequencing | Genotyping | Homozygous | 349 |
| nssv16258812 | inversion | SAMN00001696 | Sequencing | Genotyping | Homozygous | 349 |
| nssv16256405 | inversion | HG00514 | Sequencing | Genotyping | Homozygous | 338 |
| nssv16258385 | inversion | HG00514 | Sequencing | Genotyping | Homozygous | 338 |
| nssv16257712 | inversion | SAMN00001694 | Sequencing | Genotyping | Homozygous | 340 |
| nssv16258308 | inversion | SAMN00001694 | Sequencing | Genotyping | Homozygous | 340 |
| nssv16258142 | inversion | SAMN00001695 | Sequencing | Genotyping | Homozygous | 368 |
| nssv16258381 | inversion | SAMN00001695 | Sequencing | Genotyping | Homozygous | 368 |
| nssv16256279 | inversion | SAMN00006580 | Sequencing | Genotyping | Homozygous | 344 |
| nssv16257470 | inversion | SAMN00006580 | Sequencing | Genotyping | Homozygous | 344 |
| nssv16256849 | inversion | SAMN00006579 | Sequencing | Genotyping | Homozygous | 303 |
| nssv16257969 | inversion | SAMN00006579 | Sequencing | Genotyping | Homozygous | 303 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16257058 | Submitted genomic | NC_000011.10:g.497 14655_49727761inv | GRCh38 (hg38) | NC_000011.10 | Chr11 | 49,714,655 | 49,727,761 | ||
| nssv16258077 | Submitted genomic | NC_000011.10:g.497 14655_49727761inv | GRCh38 (hg38) | NC_000011.10 | Chr11 | 49,714,655 | 49,727,761 | ||
| nssv16256907 | Submitted genomic | NC_000011.10:g.497 14655_49728589inv | GRCh38 (hg38) | NC_000011.10 | Chr11 | 49,714,655 | 49,728,589 | ||
| nssv16258841 | Submitted genomic | NC_000011.10:g.497 14655_49728589inv | GRCh38 (hg38) | NC_000011.10 | Chr11 | 49,714,655 | 49,728,589 | ||
| nssv16257288 | Submitted genomic | NC_000011.10:g.497 14666_49728531inv | GRCh38 (hg38) | NC_000011.10 | Chr11 | 49,714,666 | 49,728,531 | ||
| nssv16258404 | Submitted genomic | NC_000011.10:g.497 14666_49728531inv | GRCh38 (hg38) | NC_000011.10 | Chr11 | 49,714,666 | 49,728,531 | ||
| nssv16257303 | Submitted genomic | NC_000011.10:g.497 14844_49728286inv | GRCh38 (hg38) | NC_000011.10 | Chr11 | 49,714,844 | 49,728,286 | ||
| nssv16258812 | Submitted genomic | NC_000011.10:g.497 14844_49728286inv | GRCh38 (hg38) | NC_000011.10 | Chr11 | 49,714,844 | 49,728,286 | ||
| nssv16256405 | Submitted genomic | NC_000011.10:g.497 14858_49728265inv | GRCh38 (hg38) | NC_000011.10 | Chr11 | 49,714,858 | 49,728,265 | ||
| nssv16258385 | Submitted genomic | NC_000011.10:g.497 14858_49728265inv | GRCh38 (hg38) | NC_000011.10 | Chr11 | 49,714,858 | 49,728,265 | ||
| nssv16257712 | Submitted genomic | NC_000011.10:g.497 14913_49727830inv | GRCh38 (hg38) | NC_000011.10 | Chr11 | 49,714,913 | 49,727,830 | ||
| nssv16258308 | Submitted genomic | NC_000011.10:g.497 14913_49727830inv | GRCh38 (hg38) | NC_000011.10 | Chr11 | 49,714,913 | 49,727,830 | ||
| nssv16258142 | Submitted genomic | NC_000011.10:g.497 14976_49728267inv | GRCh38 (hg38) | NC_000011.10 | Chr11 | 49,714,976 | 49,728,267 | ||
| nssv16258381 | Submitted genomic | NC_000011.10:g.497 14976_49728267inv | GRCh38 (hg38) | NC_000011.10 | Chr11 | 49,714,976 | 49,728,267 | ||
| nssv16256279 | Submitted genomic | NC_000011.10:g.497 15000_49727831inv | GRCh38 (hg38) | NC_000011.10 | Chr11 | 49,715,000 | 49,727,831 | ||
| nssv16257470 | Submitted genomic | NC_000011.10:g.497 15000_49727831inv | GRCh38 (hg38) | NC_000011.10 | Chr11 | 49,715,000 | 49,727,831 | ||
| nssv16256849 | Submitted genomic | NC_000011.10:g.497 15056_49728217inv | GRCh38 (hg38) | NC_000011.10 | Chr11 | 49,715,056 | 49,728,217 | ||
| nssv16257969 | Submitted genomic | NC_000011.10:g.497 15056_49728217inv | GRCh38 (hg38) | NC_000011.10 | Chr11 | 49,715,056 | 49,728,217 | ||
| nssv16257058 | Remapped | Perfect | NC_000011.9:g.4973 6207_49749313inv | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 49,736,207 | 49,749,313 |
| nssv16258077 | Remapped | Perfect | NC_000011.9:g.4973 6207_49749313inv | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 49,736,207 | 49,749,313 |
| nssv16256907 | Remapped | Perfect | NC_000011.9:g.4973 6207_49750141inv | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 49,736,207 | 49,750,141 |
| nssv16258841 | Remapped | Perfect | NC_000011.9:g.4973 6207_49750141inv | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 49,736,207 | 49,750,141 |
| nssv16257288 | Remapped | Perfect | NC_000011.9:g.4973 6218_49750083inv | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 49,736,218 | 49,750,083 |
| nssv16258404 | Remapped | Perfect | NC_000011.9:g.4973 6218_49750083inv | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 49,736,218 | 49,750,083 |
| nssv16257303 | Remapped | Perfect | NC_000011.9:g.4973 6396_49749838inv | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 49,736,396 | 49,749,838 |
| nssv16258812 | Remapped | Perfect | NC_000011.9:g.4973 6396_49749838inv | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 49,736,396 | 49,749,838 |
| nssv16256405 | Remapped | Perfect | NC_000011.9:g.4973 6410_49749817inv | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 49,736,410 | 49,749,817 |
| nssv16258385 | Remapped | Perfect | NC_000011.9:g.4973 6410_49749817inv | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 49,736,410 | 49,749,817 |
| nssv16257712 | Remapped | Perfect | NC_000011.9:g.4973 6465_49749382inv | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 49,736,465 | 49,749,382 |
| nssv16258308 | Remapped | Perfect | NC_000011.9:g.4973 6465_49749382inv | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 49,736,465 | 49,749,382 |
| nssv16258142 | Remapped | Perfect | NC_000011.9:g.4973 6528_49749819inv | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 49,736,528 | 49,749,819 |
| nssv16258381 | Remapped | Perfect | NC_000011.9:g.4973 6528_49749819inv | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 49,736,528 | 49,749,819 |
| nssv16256279 | Remapped | Perfect | NC_000011.9:g.4973 6552_49749383inv | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 49,736,552 | 49,749,383 |
| nssv16257470 | Remapped | Perfect | NC_000011.9:g.4973 6552_49749383inv | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 49,736,552 | 49,749,383 |
| nssv16256849 | Remapped | Perfect | NC_000011.9:g.4973 6608_49749769inv | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 49,736,608 | 49,749,769 |
| nssv16257969 | Remapped | Perfect | NC_000011.9:g.4973 6608_49749769inv | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 49,736,608 | 49,749,769 |