nsv6629672
- 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:25,503
- 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: 414 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 414 SVs from 59 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6629672 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 25,560,619 | 25,586,121 |
| nsv6629672 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 25,562,241 | 25,587,743 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18292228 | duplication | OSC3890 | SNP array | Probe signal intensity | 10 |
| nssv18324220 | duplication | OSC0166 | SNP array | Probe signal intensity | nssv18324510, nssv18324505, nssv18324506 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18292228 | Remapped | Perfect | NC_000004.12:g.(?_ 25560619)_(2558612 1_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 25,560,619 | 25,586,121 |
| nssv18324220 | Remapped | Perfect | NC_000004.12:g.(?_ 25560619)_(2558612 1_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 25,560,619 | 25,586,121 |
| nssv18292228 | Submitted genomic | NC_000004.11:g.(?_ 25562241)_(2558774 3_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 25,562,241 | 25,587,743 | ||
| nssv18324220 | Submitted genomic | NC_000004.11:g.(?_ 25562241)_(2558774 3_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 25,562,241 | 25,587,743 |