nsv6623371
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:118,568
- 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: 990 SVs from 85 studies. See in: genome view
Overlapping variant regions from other studies: 400 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 990 SVs from 85 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6623371 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 15,031,770 | 15,143,152 |
| nsv6623371 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187607.1 | Chr16|NT_1 87607.1 | 519,352 | 637,919 |
| nsv6623371 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 15,125,627 | 15,237,009 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18296866 | deletion | OSC4817 | SNP array | Probe signal intensity | 6 |
| nssv18322708 | deletion | OSC0137 | SNP array | Probe signal intensity | nssv18323255, nssv18322972 |
| nssv18322846 | deletion | OSC1468 | SNP array | Probe signal intensity | nssv18323396, nssv18323113, nssv18322462 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18296866 | Remapped | Pass | NT_187607.1:g.(?_5 19352)_(637919_?)d el | GRCh38.p12 | Second Pass | NT_187607.1 | Chr16|NT_1 87607.1 | 519,352 | 637,919 |
| nssv18322708 | Remapped | Pass | NT_187607.1:g.(?_5 19352)_(637919_?)d el | GRCh38.p12 | Second Pass | NT_187607.1 | Chr16|NT_1 87607.1 | 519,352 | 637,919 |
| nssv18322846 | Remapped | Pass | NT_187607.1:g.(?_5 19352)_(637919_?)d el | GRCh38.p12 | Second Pass | NT_187607.1 | Chr16|NT_1 87607.1 | 519,352 | 637,919 |
| nssv18296866 | Remapped | Perfect | NC_000016.10:g.(?_ 15031770)_(1514315 2_?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 15,031,770 | 15,143,152 |
| nssv18322708 | Remapped | Perfect | NC_000016.10:g.(?_ 15031770)_(1514315 2_?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 15,031,770 | 15,143,152 |
| nssv18322846 | Remapped | Perfect | NC_000016.10:g.(?_ 15031770)_(1514315 2_?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 15,031,770 | 15,143,152 |
| nssv18296866 | Submitted genomic | NC_000016.9:g.(?_1 5125627)_(15237009 _?)del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 15,125,627 | 15,237,009 | ||
| nssv18322708 | Submitted genomic | NC_000016.9:g.(?_1 5125627)_(15237009 _?)del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 15,125,627 | 15,237,009 | ||
| nssv18322846 | Submitted genomic | NC_000016.9:g.(?_1 5125627)_(15237009 _?)del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 15,125,627 | 15,237,009 |