nsv6623026
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:12
- Validation:Not tested
- Clinical Assertions: No
- Region Size:99,603
- Publication(s):Zarrei et al. 2023
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: 4036 SVs from 94 studies. See in: genome view
Overlapping variant regions from other studies: 4154 SVs from 97 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6623026 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 22,080,950 | 22,180,552 |
| nsv6623026 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 22,368,901 | 22,468,503 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18282689 | deletion | OSC0221 | SNP array | Probe signal intensity | 5 |
| nssv18283312 | duplication | OSC2379 | SNP array | Probe signal intensity | 5 |
| nssv18285141 | duplication | OSC2553 | SNP array | Probe signal intensity | 7 |
| nssv18285455 | deletion | OSC2773 | SNP array | Probe signal intensity | 5 |
| nssv18290862 | deletion | OSC0370 | SNP array | Probe signal intensity | nssv18289595, nssv18290278 |
| nssv18291916 | deletion | OSC0403 | SNP array | Probe signal intensity | nssv18292272, nssv18291923, nssv18291683 |
| nssv18296107 | deletion | OSC4458 | SNP array | Probe signal intensity | nssv18294529, nssv18295213, nssv18294844 |
| nssv18296853 | deletion | OSC4807 | SNP array | Probe signal intensity | 12 |
| nssv18297626 | duplication | OSC4896 | SNP array | Probe signal intensity | 5 |
| nssv18299090 | duplication | OSC5279 | SNP array | Probe signal intensity | 7 |
| nssv18299651 | duplication | OSC5253 | SNP array | Probe signal intensity | 5 |
| nssv18300025 | duplication | OSC5323 | SNP array | Probe signal intensity | 6 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18282689 | Remapped | Perfect | NC_000015.10:g.(?_ 22080950)_(2218055 2_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 22,080,950 | 22,180,552 |
| nssv18283312 | Remapped | Perfect | NC_000015.10:g.(?_ 22080950)_(2218055 2_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 22,080,950 | 22,180,552 |
| nssv18285141 | Remapped | Perfect | NC_000015.10:g.(?_ 22080950)_(2218055 2_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 22,080,950 | 22,180,552 |
| nssv18285455 | Remapped | Perfect | NC_000015.10:g.(?_ 22080950)_(2218055 2_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 22,080,950 | 22,180,552 |
| nssv18290862 | Remapped | Perfect | NC_000015.10:g.(?_ 22080950)_(2218055 2_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 22,080,950 | 22,180,552 |
| nssv18291916 | Remapped | Perfect | NC_000015.10:g.(?_ 22080950)_(2218055 2_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 22,080,950 | 22,180,552 |
| nssv18296107 | Remapped | Perfect | NC_000015.10:g.(?_ 22080950)_(2218055 2_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 22,080,950 | 22,180,552 |
| nssv18296853 | Remapped | Perfect | NC_000015.10:g.(?_ 22080950)_(2218055 2_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 22,080,950 | 22,180,552 |
| nssv18297626 | Remapped | Perfect | NC_000015.10:g.(?_ 22080950)_(2218055 2_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 22,080,950 | 22,180,552 |
| nssv18299090 | Remapped | Perfect | NC_000015.10:g.(?_ 22080950)_(2218055 2_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 22,080,950 | 22,180,552 |
| nssv18299651 | Remapped | Perfect | NC_000015.10:g.(?_ 22080950)_(2218055 2_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 22,080,950 | 22,180,552 |
| nssv18300025 | Remapped | Perfect | NC_000015.10:g.(?_ 22080950)_(2218055 2_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 22,080,950 | 22,180,552 |
| nssv18282689 | Submitted genomic | NC_000015.9:g.(?_2 2368901)_(22468503 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 22,368,901 | 22,468,503 | ||
| nssv18283312 | Submitted genomic | NC_000015.9:g.(?_2 2368901)_(22468503 _?)dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 22,368,901 | 22,468,503 | ||
| nssv18285141 | Submitted genomic | NC_000015.9:g.(?_2 2368901)_(22468503 _?)dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 22,368,901 | 22,468,503 | ||
| nssv18285455 | Submitted genomic | NC_000015.9:g.(?_2 2368901)_(22468503 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 22,368,901 | 22,468,503 | ||
| nssv18290862 | Submitted genomic | NC_000015.9:g.(?_2 2368901)_(22468503 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 22,368,901 | 22,468,503 | ||
| nssv18291916 | Submitted genomic | NC_000015.9:g.(?_2 2368901)_(22468503 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 22,368,901 | 22,468,503 | ||
| nssv18296107 | Submitted genomic | NC_000015.9:g.(?_2 2368901)_(22468503 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 22,368,901 | 22,468,503 | ||
| nssv18296853 | Submitted genomic | NC_000015.9:g.(?_2 2368901)_(22468503 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 22,368,901 | 22,468,503 | ||
| nssv18297626 | Submitted genomic | NC_000015.9:g.(?_2 2368901)_(22468503 _?)dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 22,368,901 | 22,468,503 | ||
| nssv18299090 | Submitted genomic | NC_000015.9:g.(?_2 2368901)_(22468503 _?)dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 22,368,901 | 22,468,503 | ||
| nssv18299651 | Submitted genomic | NC_000015.9:g.(?_2 2368901)_(22468503 _?)dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 22,368,901 | 22,468,503 | ||
| nssv18300025 | Submitted genomic | NC_000015.9:g.(?_2 2368901)_(22468503 _?)dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 22,368,901 | 22,468,503 |