nsv6620246
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:133,904
- 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: 468 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 468 SVs from 51 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6620246 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 128,245,976 | 128,379,879 |
| nsv6620246 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 130,044,240 | 130,178,143 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18288309 | deletion | OSC3304 | SNP array | Probe signal intensity | nssv18288307, nssv18288310, nssv18288311 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18288309 | Remapped | Perfect | NC_000010.11:g.(?_ 128245976)_(128379 879_?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 128,245,976 | 128,379,879 |
| nssv18288309 | Submitted genomic | NC_000010.10:g.(?_ 130044240)_(130178 143_?)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 130,044,240 | 130,178,143 |