nsv4730250
- 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:21,833
- 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: 335 SVs from 70 studies. See in: genome view
Overlapping variant regions from other studies: 335 SVs from 70 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4730250 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000011.10 | Chr11 | 1,894,043 | 1,915,875 | ||
| nsv4730250 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000011.9 | Chr11 | 1,915,273 | 1,937,105 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv16256639 | inversion | HG00512 | Sequencing | Genotyping | Homozygous | 328 |
| nssv16258578 | inversion | HG00512 | Sequencing | Genotyping | Homozygous | 328 |
| nssv16256106 | inversion | HG00514 | Sequencing | Genotyping | Homozygous | 338 |
| nssv16256300 | inversion | HG00514 | Sequencing | Genotyping | Homozygous | 338 |
| nssv16258580 | inversion | SAMN00006580 | Sequencing | Genotyping | Homozygous | 344 |
| nssv16258720 | inversion | SAMN00006580 | Sequencing | Genotyping | Homozygous | 344 |
| nssv16257757 | inversion | SAMN00006579 | Sequencing | Genotyping | Homozygous | 303 |
| nssv16257869 | inversion | SAMN00006579 | Sequencing | Genotyping | Homozygous | 303 |
| nssv16256502 | inversion | SAMN00006581 | Sequencing | Genotyping | Homozygous | 348 |
| nssv16257943 | inversion | SAMN00006581 | Sequencing | Genotyping | Homozygous | 348 |
| nssv16256061 | inversion | SAMN00006466 | Sequencing | Genotyping | Homozygous | 335 |
| nssv16257860 | inversion | SAMN00006466 | Sequencing | Genotyping | Homozygous | 335 |
| nssv16256858 | inversion | SAMN00001694 | Sequencing | Genotyping | Homozygous | 340 |
| nssv16257705 | inversion | SAMN00001694 | Sequencing | Genotyping | Homozygous | 340 |
| nssv16256315 | inversion | SAMN00001695 | Sequencing | Genotyping | Homozygous | 368 |
| nssv16258851 | inversion | SAMN00001695 | Sequencing | Genotyping | Homozygous | 368 |
| nssv16257123 | inversion | SAMN00001696 | Sequencing | Genotyping | Homozygous | 349 |
| nssv16257607 | inversion | SAMN00001696 | Sequencing | Genotyping | Homozygous | 349 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16256639 | Submitted genomic | NC_000011.10:g.189 4043_1915666inv | GRCh38 (hg38) | NC_000011.10 | Chr11 | 1,894,043 | 1,915,666 | ||
| nssv16258578 | Submitted genomic | NC_000011.10:g.189 4043_1915666inv | GRCh38 (hg38) | NC_000011.10 | Chr11 | 1,894,043 | 1,915,666 | ||
| nssv16256106 | Submitted genomic | NC_000011.10:g.189 4043_1915701inv | GRCh38 (hg38) | NC_000011.10 | Chr11 | 1,894,043 | 1,915,701 | ||
| nssv16256300 | Submitted genomic | NC_000011.10:g.189 4043_1915701inv | GRCh38 (hg38) | NC_000011.10 | Chr11 | 1,894,043 | 1,915,701 | ||
| nssv16258580 | Submitted genomic | NC_000011.10:g.189 4061_1915705inv | GRCh38 (hg38) | NC_000011.10 | Chr11 | 1,894,061 | 1,915,705 | ||
| nssv16258720 | Submitted genomic | NC_000011.10:g.189 4061_1915705inv | GRCh38 (hg38) | NC_000011.10 | Chr11 | 1,894,061 | 1,915,705 | ||
| nssv16257757 | Submitted genomic | NC_000011.10:g.189 4071_1915669inv | GRCh38 (hg38) | NC_000011.10 | Chr11 | 1,894,071 | 1,915,669 | ||
| nssv16257869 | Submitted genomic | NC_000011.10:g.189 4071_1915669inv | GRCh38 (hg38) | NC_000011.10 | Chr11 | 1,894,071 | 1,915,669 | ||
| nssv16256502 | Submitted genomic | NC_000011.10:g.189 4081_1915728inv | GRCh38 (hg38) | NC_000011.10 | Chr11 | 1,894,081 | 1,915,728 | ||
| nssv16257943 | Submitted genomic | NC_000011.10:g.189 4081_1915728inv | GRCh38 (hg38) | NC_000011.10 | Chr11 | 1,894,081 | 1,915,728 | ||
| nssv16256061 | Submitted genomic | NC_000011.10:g.189 4097_1915875inv | GRCh38 (hg38) | NC_000011.10 | Chr11 | 1,894,097 | 1,915,875 | ||
| nssv16257860 | Submitted genomic | NC_000011.10:g.189 4097_1915875inv | GRCh38 (hg38) | NC_000011.10 | Chr11 | 1,894,097 | 1,915,875 | ||
| nssv16256858 | Submitted genomic | NC_000011.10:g.189 4238_1915667inv | GRCh38 (hg38) | NC_000011.10 | Chr11 | 1,894,238 | 1,915,667 | ||
| nssv16257705 | Submitted genomic | NC_000011.10:g.189 4238_1915667inv | GRCh38 (hg38) | NC_000011.10 | Chr11 | 1,894,238 | 1,915,667 | ||
| nssv16256315 | Submitted genomic | NC_000011.10:g.189 4416_1915682inv | GRCh38 (hg38) | NC_000011.10 | Chr11 | 1,894,416 | 1,915,682 | ||
| nssv16258851 | Submitted genomic | NC_000011.10:g.189 4416_1915682inv | GRCh38 (hg38) | NC_000011.10 | Chr11 | 1,894,416 | 1,915,682 | ||
| nssv16257123 | Submitted genomic | NC_000011.10:g.189 5586_1915719inv | GRCh38 (hg38) | NC_000011.10 | Chr11 | 1,895,586 | 1,915,719 | ||
| nssv16257607 | Submitted genomic | NC_000011.10:g.189 5586_1915719inv | GRCh38 (hg38) | NC_000011.10 | Chr11 | 1,895,586 | 1,915,719 | ||
| nssv16256639 | Remapped | Perfect | NC_000011.9:g.1915 273_1936896inv | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 1,915,273 | 1,936,896 |
| nssv16258578 | Remapped | Perfect | NC_000011.9:g.1915 273_1936896inv | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 1,915,273 | 1,936,896 |
| nssv16256106 | Remapped | Perfect | NC_000011.9:g.1915 273_1936931inv | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 1,915,273 | 1,936,931 |
| nssv16256300 | Remapped | Perfect | NC_000011.9:g.1915 273_1936931inv | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 1,915,273 | 1,936,931 |
| nssv16258580 | Remapped | Perfect | NC_000011.9:g.1915 291_1936935inv | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 1,915,291 | 1,936,935 |
| nssv16258720 | Remapped | Perfect | NC_000011.9:g.1915 291_1936935inv | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 1,915,291 | 1,936,935 |
| nssv16257757 | Remapped | Perfect | NC_000011.9:g.1915 301_1936899inv | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 1,915,301 | 1,936,899 |
| nssv16257869 | Remapped | Perfect | NC_000011.9:g.1915 301_1936899inv | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 1,915,301 | 1,936,899 |
| nssv16256502 | Remapped | Perfect | NC_000011.9:g.1915 311_1936958inv | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 1,915,311 | 1,936,958 |
| nssv16257943 | Remapped | Perfect | NC_000011.9:g.1915 311_1936958inv | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 1,915,311 | 1,936,958 |
| nssv16256061 | Remapped | Perfect | NC_000011.9:g.1915 327_1937105inv | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 1,915,327 | 1,937,105 |
| nssv16257860 | Remapped | Perfect | NC_000011.9:g.1915 327_1937105inv | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 1,915,327 | 1,937,105 |
| nssv16256858 | Remapped | Perfect | NC_000011.9:g.1915 468_1936897inv | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 1,915,468 | 1,936,897 |
| nssv16257705 | Remapped | Perfect | NC_000011.9:g.1915 468_1936897inv | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 1,915,468 | 1,936,897 |
| nssv16256315 | Remapped | Perfect | NC_000011.9:g.1915 646_1936912inv | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 1,915,646 | 1,936,912 |
| nssv16258851 | Remapped | Perfect | NC_000011.9:g.1915 646_1936912inv | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 1,915,646 | 1,936,912 |
| nssv16257123 | Remapped | Perfect | NC_000011.9:g.1916 816_1936949inv | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 1,916,816 | 1,936,949 |
| nssv16257607 | Remapped | Perfect | NC_000011.9:g.1916 816_1936949inv | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 1,916,816 | 1,936,949 |