nsv6631469
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:18,309
- 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: 142 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 142 SVs from 35 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6631469 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 88,133,671 | 88,151,979 |
| nsv6631469 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 88,843,390 | 88,861,698 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18293335 | duplication | OSC4013 | SNP array | Probe signal intensity | nssv18292058, nssv18292059, nssv18292753 |
| nssv18322080 | duplication | OSC1200 | SNP array | Probe signal intensity | nssv18322078, nssv18322079, nssv18322081 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18293335 | Remapped | Perfect | NC_000006.12:g.(?_ 88133671)_(8815197 9_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 88,133,671 | 88,151,979 |
| nssv18322080 | Remapped | Perfect | NC_000006.12:g.(?_ 88133671)_(8815197 9_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 88,133,671 | 88,151,979 |
| nssv18293335 | Submitted genomic | NC_000006.11:g.(?_ 88843390)_(8886169 8_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 88,843,390 | 88,861,698 | ||
| nssv18322080 | Submitted genomic | NC_000006.11:g.(?_ 88843390)_(8886169 8_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 88,843,390 | 88,861,698 |