nsv6623023
- 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:14,400
- 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: 3504 SVs from 89 studies. See in: genome view
Overlapping variant regions from other studies: 3577 SVs from 89 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6623023 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 22,080,950 | 22,095,349 |
| nsv6623023 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 22,368,901 | 22,383,300 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18285269 | deletion | OSC2652 | SNP array | Probe signal intensity | 7 |
| nssv18285872 | duplication | OSC2926 | SNP array | Probe signal intensity | nssv18285873, nssv18285874, nssv18285875 |
| nssv18293296 | duplication | OSC4231 | SNP array | Probe signal intensity | 5 |
| nssv18294111 | deletion | OSC4320 | SNP array | Probe signal intensity | nssv18294350, nssv18294681, nssv18294682 |
| nssv18320991 | deletion | OSC1078 | SNP array | Probe signal intensity | nssv18320074, nssv18320075, nssv18320076 |
| nssv18321105 | deletion | OSC1159 | SNP array | Probe signal intensity | 11 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18285269 | Remapped | Perfect | NC_000015.10:g.(?_ 22080950)_(2209534 9_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 22,080,950 | 22,095,349 |
| nssv18285872 | Remapped | Perfect | NC_000015.10:g.(?_ 22080950)_(2209534 9_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 22,080,950 | 22,095,349 |
| nssv18293296 | Remapped | Perfect | NC_000015.10:g.(?_ 22080950)_(2209534 9_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 22,080,950 | 22,095,349 |
| nssv18294111 | Remapped | Perfect | NC_000015.10:g.(?_ 22080950)_(2209534 9_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 22,080,950 | 22,095,349 |
| nssv18320991 | Remapped | Perfect | NC_000015.10:g.(?_ 22080950)_(2209534 9_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 22,080,950 | 22,095,349 |
| nssv18321105 | Remapped | Perfect | NC_000015.10:g.(?_ 22080950)_(2209534 9_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 22,080,950 | 22,095,349 |
| nssv18285269 | Submitted genomic | NC_000015.9:g.(?_2 2368901)_(22383300 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 22,368,901 | 22,383,300 | ||
| nssv18285872 | Submitted genomic | NC_000015.9:g.(?_2 2368901)_(22383300 _?)dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 22,368,901 | 22,383,300 | ||
| nssv18293296 | Submitted genomic | NC_000015.9:g.(?_2 2368901)_(22383300 _?)dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 22,368,901 | 22,383,300 | ||
| nssv18294111 | Submitted genomic | NC_000015.9:g.(?_2 2368901)_(22383300 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 22,368,901 | 22,383,300 | ||
| nssv18320991 | Submitted genomic | NC_000015.9:g.(?_2 2368901)_(22383300 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 22,368,901 | 22,383,300 | ||
| nssv18321105 | Submitted genomic | NC_000015.9:g.(?_2 2368901)_(22383300 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 22,368,901 | 22,383,300 |