nsv6620258
- 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:40,886
- 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: 669 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 669 SVs from 71 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6620258 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 133,326,066 | 133,366,951 |
| nsv6620258 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 135,139,570 | 135,180,455 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18296542 | deletion | OSC0488 | SNP array | Probe signal intensity | 8 |
| nssv18323947 | deletion | OSC1606 | SNP array | Probe signal intensity |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18296542 | Remapped | Perfect | NC_000010.11:g.(?_ 133326066)_(133366 951_?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 133,326,066 | 133,366,951 |
| nssv18323947 | Remapped | Perfect | NC_000010.11:g.(?_ 133326066)_(133366 951_?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 133,326,066 | 133,366,951 |
| nssv18296542 | Submitted genomic | NC_000010.10:g.(?_ 135139570)_(135180 455_?)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 135,139,570 | 135,180,455 | ||
| nssv18323947 | Submitted genomic | NC_000010.10:g.(?_ 135139570)_(135180 455_?)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 135,139,570 | 135,180,455 |