nsv1018749
- Organism: Homo sapiens
- Study:nstd100 (Coe et al. 2014)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:846,084
- 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: 1979 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 1979 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 487 SVs from 18 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1018749 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 69,684,043 | 70,530,126 |
| nsv1018749 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 69,149,029 | 69,995,112 |
| nsv1018749 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 68,786,965 | 69,633,048 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv3444703 | copy number loss | 9873721 | Oligo aCGH | Probe signal intensity | nssv3462473 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv3444703 | Remapped | Perfect | NC_000007.14:g.(?_ 69684043)_(7053012 6_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 69,684,043 | 70,530,126 |
| nssv3444703 | Remapped | Perfect | NC_000007.13:g.(?_ 69149029)_(6999511 2_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 69,149,029 | 69,995,112 |
| nssv3444703 | Submitted genomic | NC_000007.12:g.(?_ 68786965)_(6963304 8_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 68,786,965 | 69,633,048 |