nsv6630961
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:10
- Validation:Not tested
- Clinical Assertions: No
- Region Size:33,142
- 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: 322 SVs from 65 studies. See in: genome view
Overlapping variant regions from other studies: 322 SVs from 65 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6630961 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 29,150,753 | 29,183,894 |
| nsv6630961 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 29,118,530 | 29,151,671 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18285083 | deletion | OSC2515 | SNP array | Probe signal intensity | nssv18285084, nssv18284146 |
| nssv18288087 | deletion | OSC3309 | SNP array | Probe signal intensity | 8 |
| nssv18288699 | deletion | OSC3351 | SNP array | Probe signal intensity | 5 |
| nssv18290444 | deletion | OSC0382 | SNP array | Probe signal intensity | 6 |
| nssv18296458 | deletion | OSC4692 | SNP array | Probe signal intensity | 7 |
| nssv18297069 | deletion | OSC4730 | SNP array | Probe signal intensity | 8 |
| nssv18297235 | deletion | OSC4844 | SNP array | Probe signal intensity | 9 |
| nssv18297872 | deletion | OSC5056 | SNP array | Probe signal intensity | 7 |
| nssv18302127 | deletion | OSC5725 | SNP array | Probe signal intensity | nssv18301524, nssv18302393, nssv18302392 |
| nssv18324377 | deletion | OSC0179 | SNP array | Probe signal intensity | 7 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18285083 | Remapped | Perfect | NC_000006.12:g.(?_ 29150753)_(2918389 4_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 29,150,753 | 29,183,894 |
| nssv18288087 | Remapped | Perfect | NC_000006.12:g.(?_ 29150753)_(2918389 4_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 29,150,753 | 29,183,894 |
| nssv18288699 | Remapped | Perfect | NC_000006.12:g.(?_ 29150753)_(2918389 4_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 29,150,753 | 29,183,894 |
| nssv18290444 | Remapped | Perfect | NC_000006.12:g.(?_ 29150753)_(2918389 4_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 29,150,753 | 29,183,894 |
| nssv18296458 | Remapped | Perfect | NC_000006.12:g.(?_ 29150753)_(2918389 4_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 29,150,753 | 29,183,894 |
| nssv18297069 | Remapped | Perfect | NC_000006.12:g.(?_ 29150753)_(2918389 4_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 29,150,753 | 29,183,894 |
| nssv18297235 | Remapped | Perfect | NC_000006.12:g.(?_ 29150753)_(2918389 4_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 29,150,753 | 29,183,894 |
| nssv18297872 | Remapped | Perfect | NC_000006.12:g.(?_ 29150753)_(2918389 4_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 29,150,753 | 29,183,894 |
| nssv18302127 | Remapped | Perfect | NC_000006.12:g.(?_ 29150753)_(2918389 4_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 29,150,753 | 29,183,894 |
| nssv18324377 | Remapped | Perfect | NC_000006.12:g.(?_ 29150753)_(2918389 4_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 29,150,753 | 29,183,894 |
| nssv18285083 | Submitted genomic | NC_000006.11:g.(?_ 29118530)_(2915167 1_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 29,118,530 | 29,151,671 | ||
| nssv18288087 | Submitted genomic | NC_000006.11:g.(?_ 29118530)_(2915167 1_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 29,118,530 | 29,151,671 | ||
| nssv18288699 | Submitted genomic | NC_000006.11:g.(?_ 29118530)_(2915167 1_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 29,118,530 | 29,151,671 | ||
| nssv18290444 | Submitted genomic | NC_000006.11:g.(?_ 29118530)_(2915167 1_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 29,118,530 | 29,151,671 | ||
| nssv18296458 | Submitted genomic | NC_000006.11:g.(?_ 29118530)_(2915167 1_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 29,118,530 | 29,151,671 | ||
| nssv18297069 | Submitted genomic | NC_000006.11:g.(?_ 29118530)_(2915167 1_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 29,118,530 | 29,151,671 | ||
| nssv18297235 | Submitted genomic | NC_000006.11:g.(?_ 29118530)_(2915167 1_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 29,118,530 | 29,151,671 | ||
| nssv18297872 | Submitted genomic | NC_000006.11:g.(?_ 29118530)_(2915167 1_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 29,118,530 | 29,151,671 | ||
| nssv18302127 | Submitted genomic | NC_000006.11:g.(?_ 29118530)_(2915167 1_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 29,118,530 | 29,151,671 | ||
| nssv18324377 | Submitted genomic | NC_000006.11:g.(?_ 29118530)_(2915167 1_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 29,118,530 | 29,151,671 |