nsv483123
- Organism: Homo sapiens
- Study:nstd41 (Iafrate et al. 2004)
- Variant Type:copy number variation
- Method Type:BAC aCGH
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:156,888
- Publication(s):Iafrate 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: 410 SVs from 48 studies. See in: genome view
Overlapping variant regions from other studies: 410 SVs from 48 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv483123 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 172,891,889 | 173,048,776 |
| nsv483123 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 173,756,617 | 173,913,504 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv2996129 | copy number gain | BAC aCGH | Probe signal intensity |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv2996129 | Remapped | Perfect | NC_000002.12:g.(?_ 172891889)_(173048 776_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 172,891,889 | 173,048,776 |
| nssv2996129 | Submitted genomic | NC_000002.11:g.(?_ 173756617)_(173913 504_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 173,756,617 | 173,913,504 |