nsv4730219
- Organism: Homo sapiens
- Study:nstd198 (Hanlon et al. 2021)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:3,738,859
- 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: 2619 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 2613 SVs from 62 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4730219 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000024.10 | ChrY | 6,198,014 | 9,936,872 | ||
| nsv4730219 | Remapped | Good | GRCh37.p13 | Primary Assembly | First Pass | NC_000024.9 | ChrY | 6,066,055 | 9,774,481 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv16257656 | inversion | SAMN00001695 | Sequencing | Genotyping | Hemizygous | 368 |
| nssv16258243 | inversion | HG00512 | Sequencing | Genotyping | Hemizygous | 328 |
| nssv16256963 | inversion | SAMN00001695 | Sequencing | Genotyping | Hemizygous | 368 |
| nssv16257909 | inversion | HG00512 | Sequencing | Genotyping | Hemizygous | 328 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16257656 | Submitted genomic | NC_000024.10:g.619 8014_9936872inv | GRCh38 (hg38) | NC_000024.10 | ChrY | 6,198,014 | 9,936,872 | ||
| nssv16258243 | Submitted genomic | NC_000024.10:g.624 0690_6358070inv | GRCh38 (hg38) | NC_000024.10 | ChrY | 6,240,690 | 6,358,070 | ||
| nssv16256963 | Submitted genomic | NC_000024.10:g.624 0762_9910296inv | GRCh38 (hg38) | NC_000024.10 | ChrY | 6,240,762 | 9,910,296 | ||
| nssv16257909 | Submitted genomic | NC_000024.10:g.981 7206_9914577inv | GRCh38 (hg38) | NC_000024.10 | ChrY | 9,817,206 | 9,914,577 | ||
| nssv16257656 | Remapped | Good | NC_000024.9:g.6066 055_9774481inv | GRCh37.p13 | First Pass | NC_000024.9 | ChrY | 6,066,055 | 9,774,481 |
| nssv16258243 | Remapped | Perfect | NC_000024.9:g.6108 731_6226111inv | GRCh37.p13 | First Pass | NC_000024.9 | ChrY | 6,108,731 | 6,226,111 |
| nssv16256963 | Remapped | Good | NC_000024.9:g.6108 803_9747905inv | GRCh37.p13 | First Pass | NC_000024.9 | ChrY | 6,108,803 | 9,747,905 |
| nssv16257909 | Remapped | Perfect | NC_000024.9:g.9654 815_9752186inv | GRCh37.p13 | First Pass | NC_000024.9 | ChrY | 9,654,815 | 9,752,186 |