nsv6630990
- 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:18,398
- 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: 178 SVs from 44 studies. See in: genome view
Overlapping variant regions from other studies: 178 SVs from 44 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6630990 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 33,139,684 | 33,158,081 |
| nsv6630990 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 33,107,461 | 33,125,858 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18297107 | duplication | OSC4757 | SNP array | Probe signal intensity | nssv18296770, nssv18296550, nssv18297108 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18297107 | Remapped | Perfect | NC_000006.12:g.(?_ 33139684)_(3315808 1_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 33,139,684 | 33,158,081 |
| nssv18297107 | Submitted genomic | NC_000006.11:g.(?_ 33107461)_(3312585 8_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 33,107,461 | 33,125,858 |