nsv1060776
- 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:30,468
- 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: 216 SVs from 44 studies. See in: genome view
Overlapping variant regions from other studies: 216 SVs from 44 studies. See in: genome view
Overlapping variant regions from other studies: 57 SVs from 12 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1060776 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 31,473,906 | 31,504,373 |
| nsv1060776 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000022.10 | Chr22 | 31,869,892 | 31,900,359 |
| nsv1060776 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000022.9 | Chr22 | 30,199,892 | 30,230,359 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv3734197 | copy number gain | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv3734197 | Remapped | Perfect | NC_000022.11:g.(?_ 31473906)_(3150437 3_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 31,473,906 | 31,504,373 |
| nssv3734197 | Remapped | Perfect | NC_000022.10:g.(?_ 31869892)_(3190035 9_?)dup | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 31,869,892 | 31,900,359 |
| nssv3734197 | Submitted genomic | NC_000022.9:g.(?_3 0199892)_(30230359 _?)dup | NCBI36 (hg18) | NC_000022.9 | Chr22 | 30,199,892 | 30,230,359 |