nsv6622966
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:6
- Validation:Not tested
- Clinical Assertions: No
- Region Size:134,242
- 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: 4230 SVs from 98 studies. See in: genome view
Overlapping variant regions from other studies: 4375 SVs from 102 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6622966 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 22,081,036 | 22,215,277 |
| nsv6622966 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 22,368,987 | 22,503,228 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18282545 | duplication | OSC2027 | SNP array | Probe signal intensity | 6 |
| nssv18284262 | duplication | OSC2598 | SNP array | Probe signal intensity | nssv18284261, nssv18284874, nssv18284875 |
| nssv18286345 | duplication | OSC0286 | SNP array | Probe signal intensity | 9 |
| nssv18294693 | deletion | OSC4330 | SNP array | Probe signal intensity | 5 |
| nssv18300233 | duplication | OSC5454 | SNP array | Probe signal intensity | 7 |
| nssv18301115 | duplication | OSC5457 | SNP array | Probe signal intensity | nssv18300484, nssv18300833, nssv18300485 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18282545 | Remapped | Perfect | NC_000015.10:g.(?_ 22081036)_(2221527 7_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 22,081,036 | 22,215,277 |
| nssv18284262 | Remapped | Perfect | NC_000015.10:g.(?_ 22081036)_(2221527 7_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 22,081,036 | 22,215,277 |
| nssv18286345 | Remapped | Perfect | NC_000015.10:g.(?_ 22081036)_(2221527 7_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 22,081,036 | 22,215,277 |
| nssv18294693 | Remapped | Perfect | NC_000015.10:g.(?_ 22081036)_(2221527 7_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 22,081,036 | 22,215,277 |
| nssv18300233 | Remapped | Perfect | NC_000015.10:g.(?_ 22081036)_(2221527 7_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 22,081,036 | 22,215,277 |
| nssv18301115 | Remapped | Perfect | NC_000015.10:g.(?_ 22081036)_(2221527 7_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 22,081,036 | 22,215,277 |
| nssv18282545 | Submitted genomic | NC_000015.9:g.(?_2 2368987)_(22503228 _?)dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 22,368,987 | 22,503,228 | ||
| nssv18284262 | Submitted genomic | NC_000015.9:g.(?_2 2368987)_(22503228 _?)dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 22,368,987 | 22,503,228 | ||
| nssv18286345 | Submitted genomic | NC_000015.9:g.(?_2 2368987)_(22503228 _?)dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 22,368,987 | 22,503,228 | ||
| nssv18294693 | Submitted genomic | NC_000015.9:g.(?_2 2368987)_(22503228 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 22,368,987 | 22,503,228 | ||
| nssv18300233 | Submitted genomic | NC_000015.9:g.(?_2 2368987)_(22503228 _?)dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 22,368,987 | 22,503,228 | ||
| nssv18301115 | Submitted genomic | NC_000015.9:g.(?_2 2368987)_(22503228 _?)dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 22,368,987 | 22,503,228 |