nsv471378
- Organism: Homo sapiens
- Study:nstd31 (Alkan et al. 2009)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI35 (hg17)
- Variant Calls:1
- Validation:Yes
- Clinical Assertions: No
- Region Size:43,563
- Description:NIPA1
- Publication(s):Alkan et al. 2009
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: 1192 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 1495 SVs from 85 studies. See in: genome view
Overlapping variant regions from other studies: 58 SVs from 12 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv471378 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 22,786,225 | 22,829,787 |
| nsv471378 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000015.9 | Chr15 | 23,043,281 | 23,086,843 |
| nsv471378 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000015.8 | Chr15 | 20,594,722 | 20,638,284 |
Variant Call Information
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv548108 | Remapped | Perfect | NC_000015.10:g.(22 786225_?)_(?_22829 787)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 22,786,225 | 22,829,787 |
| nssv548108 | Remapped | Perfect | NC_000015.9:g.(230 43281_?)_(?_230868 43)del | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 23,043,281 | 23,086,843 |
| nssv548108 | Submitted genomic | NC_000015.8:g.(205 94722_?)_(?_206382 84)del | NCBI35 (hg17) | NC_000015.8 | Chr15 | 20,594,722 | 20,638,284 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| nssv548108 | 4 | NA18507 | Oligo aCGH | Probe signal intensity | Pass |