nsv538916
- Organism: Homo sapiens
- Study:nstd54 (Cooper et al. 2011)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1,036,969
- Publication(s):Cooper et al. 2011
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: 2380 SVs from 80 studies. See in: genome view
Overlapping variant regions from other studies: 2380 SVs from 80 studies. See in: genome view
Overlapping variant regions from other studies: 620 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv538916 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 69,604,208 | 70,641,176 |
| nsv538916 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 69,069,194 | 70,106,162 |
| nsv538916 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 68,707,130 | 69,744,098 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv1163417 | copy number loss | 9884024 | Oligo aCGH | Probe signal intensity | 6 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv1163417 | Remapped | Perfect | NC_000007.14:g.(?_ 69604208)_(7064117 6_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 69,604,208 | 70,641,176 |
| nssv1163417 | Remapped | Perfect | NC_000007.13:g.(?_ 69069194)_(7010616 2_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 69,069,194 | 70,106,162 |
| nssv1163417 | Submitted genomic | NC_000007.12:g.(?_ 68707130)_(6974409 8_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 68,707,130 | 69,744,098 |