nsv482990
- Organism: Homo sapiens
- Study:nstd41 (Iafrate et al. 2004)
- Variant Type:copy number variation
- Method Type:BAC aCGH
- Submitted on:GRCh37 (hg19)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:161,459
- 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: 641 SVs from 67 studies. See in: genome view
Overlapping variant regions from other studies: 641 SVs from 67 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv482990 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 104,427,612 | 104,589,070 |
| nsv482990 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 104,298,340 | 104,459,798 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv2996223 | copy number loss | BAC aCGH | Probe signal intensity |
| nssv2996446 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv2996223 | Remapped | Perfect | NC_000011.10:g.(?_ 104427612)_(104589 070_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 104,427,612 | 104,589,070 |
| nssv2996446 | Remapped | Perfect | NC_000011.10:g.(?_ 104427612)_(104589 070_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 104,427,612 | 104,589,070 |
| nssv2996223 | Submitted genomic | NC_000011.9:g.(?_1 04298340)_(1044597 98_?)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 104,298,340 | 104,459,798 | ||
| nssv2996446 | Submitted genomic | NC_000011.9:g.(?_1 04298340)_(1044597 98_?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 104,298,340 | 104,459,798 |