nsv6623848
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:70,149
- 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: 1390 SVs from 90 studies. See in: genome view
Overlapping variant regions from other studies: 1035 SVs from 64 studies. See in: genome view
Overlapping variant regions from other studies: 1205 SVs from 74 studies. See in: genome view
Overlapping variant regions from other studies: 1430 SVs from 92 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6623848 | Remapped | Good | GRCh38.p12 | Primary Assembly | Second Pass | NC_000017.11 | Chr17 | 36,064,361 | 36,134,487 |
| nsv6623848 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187661.1 | Chr17|NT_1 87661.1 | 18,458 | 88,584 |
| nsv6623848 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | First Pass | NT_187614.1 | Chr17|NT_1 87614.1 | 299,249 | 369,397 |
| nsv6623848 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 34,391,721 | 34,461,869 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18286187 | duplication | OSC2881 | SNP array | Probe signal intensity | nssv18285607 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18286187 | Remapped | Good | NT_187661.1:g.(?_1 8458)_(88584_?)dup | GRCh38.p12 | Second Pass | NT_187661.1 | Chr17|NT_1 87661.1 | 18,458 | 88,584 |
| nssv18286187 | Remapped | Perfect | NT_187614.1:g.(?_2 99249)_(369397_?)d up | GRCh38.p12 | First Pass | NT_187614.1 | Chr17|NT_1 87614.1 | 299,249 | 369,397 |
| nssv18286187 | Remapped | Good | NC_000017.11:g.(?_ 36064361)_(3613448 7_?)dup | GRCh38.p12 | Second Pass | NC_000017.11 | Chr17 | 36,064,361 | 36,134,487 |
| nssv18286187 | Submitted genomic | NC_000017.10:g.(?_ 34391721)_(3446186 9_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 34,391,721 | 34,461,869 |