nsv1011989
- Organism: Homo sapiens
- Study:nstd100 (Coe et al. 2014)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:33,937
- Publication(s):Coe et al. 2014
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: 279 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 279 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 79 SVs from 17 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1011989 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 69,622,101 | 69,656,037 |
| nsv1011989 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 70,487,819 | 70,521,755 |
| nsv1011989 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000004.10 | Chr4 | 70,522,408 | 70,556,344 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv3633064 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv3633064 | Remapped | Perfect | NC_000004.12:g.(?_ 69622101)_(6965603 7_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 69,622,101 | 69,656,037 |
| nssv3633064 | Remapped | Perfect | NC_000004.11:g.(?_ 70487819)_(7052175 5_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 70,487,819 | 70,521,755 |
| nssv3633064 | Submitted genomic | NC_000004.10:g.(?_ 70522408)_(7055634 4_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 70,522,408 | 70,556,344 |