nsv6630060
- 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:13,486
- 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: 211 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 209 SVs from 49 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6630060 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 141,211,156 | 141,224,641 |
| nsv6630060 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 140,590,728 | 140,604,213 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18300681 | deletion | OSC5606 | SNP array | Probe signal intensity | 7 |
| nssv18302093 | deletion | OSC5700 | SNP array | Probe signal intensity | nssv18301485, nssv18302094, nssv18301484 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18300681 | Remapped | Perfect | NC_000005.10:g.(?_ 141211156)_(141224 641_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 141,211,156 | 141,224,641 |
| nssv18302093 | Remapped | Perfect | NC_000005.10:g.(?_ 141211156)_(141224 641_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 141,211,156 | 141,224,641 |
| nssv18300681 | Submitted genomic | NC_000005.9:g.(?_1 40590728)_(1406042 13_?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 140,590,728 | 140,604,213 | ||
| nssv18302093 | Submitted genomic | NC_000005.9:g.(?_1 40590728)_(1406042 13_?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 140,590,728 | 140,604,213 |