nsv6633619
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:163,887
- 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: 2132 SVs from 98 studies. See in: genome view
Overlapping variant regions from other studies: 2134 SVs from 98 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6633619 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 185,632 | 349,518 |
| nsv6633619 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 185,632 | 349,518 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18288036 | duplication | OSC3279 | SNP array | Probe signal intensity | nssv18288034, nssv18288600, nssv18288035 |
| nssv18291884 | deletion | OSC3899 | SNP array | Probe signal intensity | nssv18291650, nssv18291885, nssv18292555 |
| nssv18292403 | duplication | OSC3784 | SNP array | Probe signal intensity | 5 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18288036 | Remapped | Perfect | NC_000009.12:g.(?_ 185632)_(349518_?) dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 185,632 | 349,518 |
| nssv18291884 | Remapped | Perfect | NC_000009.12:g.(?_ 185632)_(349518_?) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 185,632 | 349,518 |
| nssv18292403 | Remapped | Perfect | NC_000009.12:g.(?_ 185632)_(349518_?) dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 185,632 | 349,518 |
| nssv18288036 | Submitted genomic | NC_000009.11:g.(?_ 185632)_(349518_?) dup | GRCh37 (hg19) | NC_000009.11 | Chr9 | 185,632 | 349,518 | ||
| nssv18291884 | Submitted genomic | NC_000009.11:g.(?_ 185632)_(349518_?) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 185,632 | 349,518 | ||
| nssv18292403 | Submitted genomic | NC_000009.11:g.(?_ 185632)_(349518_?) dup | GRCh37 (hg19) | NC_000009.11 | Chr9 | 185,632 | 349,518 |