nsv471373
- Organism: Homo sapiens
- Study:nstd31 (Alkan et al. 2009)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI35 (hg17)
- Variant Calls:3
- Validation:Yes
- Clinical Assertions: No
- Region Size:31,415
- Description:POTEB
- 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: 3978 SVs from 77 studies. See in: genome view
Overlapping variant regions from other studies: 3565 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 506 SVs from 13 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 |
---|---|---|---|---|---|---|---|---|---|
nsv471373 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 21,408,964 | 21,440,378 |
nsv471373 | Remapped | Good | GRCh37.p13 | Primary Assembly | Second Pass | NC_000015.9 | Chr15 | 21,040,701 | 21,071,977 |
nsv471373 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000015.8 | Chr15 | 19,305,253 | 19,336,667 |
Variant Call Information
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
---|---|---|---|---|---|---|---|---|---|
nssv548098 | Remapped | Perfect | NC_000015.10:g.(21 408964_?)_(?_21440 378)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 21,408,964 | 21,440,378 |
nssv548099 | Remapped | Perfect | NC_000015.10:g.(21 408964_?)_(?_21440 378)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 21,408,964 | 21,440,378 |
nssv548101 | Remapped | Perfect | NC_000015.10:g.(21 408964_?)_(?_21440 378)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 21,408,964 | 21,440,378 |
nssv548098 | Remapped | Good | NC_000015.9:g.(210 40701_?)_(?_210719 77)dup | GRCh37.p13 | Second Pass | NC_000015.9 | Chr15 | 21,040,701 | 21,071,977 |
nssv548099 | Remapped | Good | NC_000015.9:g.(210 40701_?)_(?_210719 77)dup | GRCh37.p13 | Second Pass | NC_000015.9 | Chr15 | 21,040,701 | 21,071,977 |
nssv548101 | Remapped | Good | NC_000015.9:g.(210 40701_?)_(?_210719 77)dup | GRCh37.p13 | Second Pass | NC_000015.9 | Chr15 | 21,040,701 | 21,071,977 |
nssv548098 | Submitted genomic | NC_000015.8:g.(193 05253_?)_(?_193366 67)dup | NCBI35 (hg17) | NC_000015.8 | Chr15 | 19,305,253 | 19,336,667 | ||
nssv548099 | Submitted genomic | NC_000015.8:g.(193 05253_?)_(?_193366 67)dup | NCBI35 (hg17) | NC_000015.8 | Chr15 | 19,305,253 | 19,336,667 | ||
nssv548101 | Submitted genomic | NC_000015.8:g.(193 05253_?)_(?_193366 67)dup | NCBI35 (hg17) | NC_000015.8 | Chr15 | 19,305,253 | 19,336,667 |
Validation Information
Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
---|---|---|---|---|---|
nssv548098 | 4 | JDW | Oligo aCGH | Probe signal intensity | Pass |
nssv548099 | 4 | NA18507 | Oligo aCGH | Probe signal intensity | Pass |
nssv548101 | 4 | YH | Oligo aCGH | Probe signal intensity | Pass |