nsv6631242
- 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:19,144
- 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: 755 SVs from 86 studies. See in: genome view
Overlapping variant regions from other studies: 755 SVs from 86 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6631242 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 29,950,322 | 29,969,465 |
| nsv6631242 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 29,918,099 | 29,937,242 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18300224 | deletion | OSC5445 | SNP array | Probe signal intensity | nssv18300468, nssv18300815, nssv18300816 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18300224 | Remapped | Perfect | NC_000006.12:g.(?_ 29950322)_(2996946 5_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 29,950,322 | 29,969,465 |
| nssv18300224 | Submitted genomic | NC_000006.11:g.(?_ 29918099)_(2993724 2_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 29,918,099 | 29,937,242 |