nsv821670
- Organism: Homo sapiens
- Study:nstd66 (Sebat et al. 2004)
- Variant Type:copy number variation
- Method Type:ROMA
- Submitted on:NCBI35 (hg17)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:16,404
- Publication(s):Sebat et al. 2004
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: 194 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 195 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 7 SVs from 3 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv821670 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 16,405,220 | 16,421,623 |
| nsv821670 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 16,558,154 | 16,574,557 |
| nsv821670 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000012.9 | Chr12 | 16,449,421 | 16,465,824 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv1421244 | copy number loss | ROMA | Probe signal intensity |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv1421244 | Remapped | Perfect | NC_000012.12:g.(?_ 16405220)_(1642162 3_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 16,405,220 | 16,421,623 |
| nssv1421244 | Remapped | Perfect | NC_000012.11:g.(?_ 16558154)_(1657455 7_?)del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 16,558,154 | 16,574,557 |
| nssv1421244 | Submitted genomic | NC_000012.9:g.(?_1 6449421)_(16465824 _?)del | NCBI35 (hg17) | NC_000012.9 | Chr12 | 16,449,421 | 16,465,824 |