nsv1331194
- Organism: Homo sapiens
- Study:nstd122 (Duyzend et al. 2015)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:481,007
- Publication(s):Duyzend et al. 2015
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: 2342 SVs from 106 studies. See in: genome view
Overlapping variant regions from other studies: 2342 SVs from 106 studies. See in: genome view
Overlapping variant regions from other studies: 816 SVs from 31 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1331194 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 66,242,375 | 66,723,381 |
| nsv1331194 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 66,952,268 | 67,433,274 |
| nsv1331194 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 67,008,989 | 67,489,995 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv8322120 | copy number loss | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv8322120 | Remapped | Perfect | NC_000006.12:g.(?_ 66242375)_(6672338 1_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 66,242,375 | 66,723,381 |
| nssv8322120 | Remapped | Perfect | NC_000006.11:g.(?_ 66952268)_(6743327 4_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 66,952,268 | 67,433,274 |
| nssv8322120 | Submitted genomic | NC_000006.10:g.(?_ 67008989)_(6748999 5_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 67,008,989 | 67,489,995 |