nsv6626622
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:14
- Validation:Not tested
- Clinical Assertions: No
- Region Size:28,484
- 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: 545 SVs from 65 studies. See in: genome view
Overlapping variant regions from other studies: 537 SVs from 65 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6626622 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 13,862,956 | 13,891,439 |
| nsv6626622 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 15,235,277 | 15,263,760 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18302977 | deletion | OSC5950 | SNP array | Probe signal intensity | 7 |
| nssv18303906 | duplication | OSC6124 | SNP array | Probe signal intensity | 7 |
| nssv18304929 | duplication | OSC6223 | SNP array | Probe signal intensity | 13 |
| nssv18305069 | deletion | OSC6300 | SNP array | Probe signal intensity | 6 |
| nssv18305713 | duplication | OSC6340 | SNP array | Probe signal intensity | 11 |
| nssv18307323 | duplication | OSC6598 | SNP array | Probe signal intensity | 9 |
| nssv18307597 | duplication | OSC6766 | SNP array | Probe signal intensity | 10 |
| nssv18307675 | duplication | OSC6823 | SNP array | Probe signal intensity | 10 |
| nssv18307956 | duplication | OSC6848 | SNP array | Probe signal intensity | 8 |
| nssv18309240 | duplication | OSC7081 | SNP array | Probe signal intensity | 6 |
| nssv18312622 | duplication | OSC7751 | SNP array | Probe signal intensity | 8 |
| nssv18317425 | duplication | OSC8460 | SNP array | Probe signal intensity | 14 |
| nssv18317604 | duplication | OSC8588 | SNP array | Probe signal intensity | 11 |
| nssv18319507 | duplication | OSC8648 | SNP array | Probe signal intensity | nssv18319506, nssv18318977, nssv18318976 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18302977 | Remapped | Perfect | NC_000021.9:g.(?_1 3862956)_(13891439 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 13,862,956 | 13,891,439 |
| nssv18303906 | Remapped | Perfect | NC_000021.9:g.(?_1 3862956)_(13891439 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 13,862,956 | 13,891,439 |
| nssv18304929 | Remapped | Perfect | NC_000021.9:g.(?_1 3862956)_(13891439 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 13,862,956 | 13,891,439 |
| nssv18305069 | Remapped | Perfect | NC_000021.9:g.(?_1 3862956)_(13891439 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 13,862,956 | 13,891,439 |
| nssv18305713 | Remapped | Perfect | NC_000021.9:g.(?_1 3862956)_(13891439 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 13,862,956 | 13,891,439 |
| nssv18307323 | Remapped | Perfect | NC_000021.9:g.(?_1 3862956)_(13891439 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 13,862,956 | 13,891,439 |
| nssv18307597 | Remapped | Perfect | NC_000021.9:g.(?_1 3862956)_(13891439 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 13,862,956 | 13,891,439 |
| nssv18307675 | Remapped | Perfect | NC_000021.9:g.(?_1 3862956)_(13891439 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 13,862,956 | 13,891,439 |
| nssv18307956 | Remapped | Perfect | NC_000021.9:g.(?_1 3862956)_(13891439 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 13,862,956 | 13,891,439 |
| nssv18309240 | Remapped | Perfect | NC_000021.9:g.(?_1 3862956)_(13891439 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 13,862,956 | 13,891,439 |
| nssv18312622 | Remapped | Perfect | NC_000021.9:g.(?_1 3862956)_(13891439 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 13,862,956 | 13,891,439 |
| nssv18317425 | Remapped | Perfect | NC_000021.9:g.(?_1 3862956)_(13891439 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 13,862,956 | 13,891,439 |
| nssv18317604 | Remapped | Perfect | NC_000021.9:g.(?_1 3862956)_(13891439 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 13,862,956 | 13,891,439 |
| nssv18319507 | Remapped | Perfect | NC_000021.9:g.(?_1 3862956)_(13891439 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 13,862,956 | 13,891,439 |
| nssv18302977 | Submitted genomic | NC_000021.8:g.(?_1 5235277)_(15263760 _?)del | GRCh37 (hg19) | NC_000021.8 | Chr21 | 15,235,277 | 15,263,760 | ||
| nssv18303906 | Submitted genomic | NC_000021.8:g.(?_1 5235277)_(15263760 _?)dup | GRCh37 (hg19) | NC_000021.8 | Chr21 | 15,235,277 | 15,263,760 | ||
| nssv18304929 | Submitted genomic | NC_000021.8:g.(?_1 5235277)_(15263760 _?)dup | GRCh37 (hg19) | NC_000021.8 | Chr21 | 15,235,277 | 15,263,760 | ||
| nssv18305069 | Submitted genomic | NC_000021.8:g.(?_1 5235277)_(15263760 _?)del | GRCh37 (hg19) | NC_000021.8 | Chr21 | 15,235,277 | 15,263,760 | ||
| nssv18305713 | Submitted genomic | NC_000021.8:g.(?_1 5235277)_(15263760 _?)dup | GRCh37 (hg19) | NC_000021.8 | Chr21 | 15,235,277 | 15,263,760 | ||
| nssv18307323 | Submitted genomic | NC_000021.8:g.(?_1 5235277)_(15263760 _?)dup | GRCh37 (hg19) | NC_000021.8 | Chr21 | 15,235,277 | 15,263,760 | ||
| nssv18307597 | Submitted genomic | NC_000021.8:g.(?_1 5235277)_(15263760 _?)dup | GRCh37 (hg19) | NC_000021.8 | Chr21 | 15,235,277 | 15,263,760 | ||
| nssv18307675 | Submitted genomic | NC_000021.8:g.(?_1 5235277)_(15263760 _?)dup | GRCh37 (hg19) | NC_000021.8 | Chr21 | 15,235,277 | 15,263,760 | ||
| nssv18307956 | Submitted genomic | NC_000021.8:g.(?_1 5235277)_(15263760 _?)dup | GRCh37 (hg19) | NC_000021.8 | Chr21 | 15,235,277 | 15,263,760 | ||
| nssv18309240 | Submitted genomic | NC_000021.8:g.(?_1 5235277)_(15263760 _?)dup | GRCh37 (hg19) | NC_000021.8 | Chr21 | 15,235,277 | 15,263,760 | ||
| nssv18312622 | Submitted genomic | NC_000021.8:g.(?_1 5235277)_(15263760 _?)dup | GRCh37 (hg19) | NC_000021.8 | Chr21 | 15,235,277 | 15,263,760 | ||
| nssv18317425 | Submitted genomic | NC_000021.8:g.(?_1 5235277)_(15263760 _?)dup | GRCh37 (hg19) | NC_000021.8 | Chr21 | 15,235,277 | 15,263,760 | ||
| nssv18317604 | Submitted genomic | NC_000021.8:g.(?_1 5235277)_(15263760 _?)dup | GRCh37 (hg19) | NC_000021.8 | Chr21 | 15,235,277 | 15,263,760 | ||
| nssv18319507 | Submitted genomic | NC_000021.8:g.(?_1 5235277)_(15263760 _?)dup | GRCh37 (hg19) | NC_000021.8 | Chr21 | 15,235,277 | 15,263,760 |